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Pediatrics 2020 May 26. Epub 2020 May 26.

Department of Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, California.

Achondroplasia is the most common short-stature skeletal dysplasia, additionally marked by rhizomelia, macrocephaly, midface hypoplasia, and normal cognition. Potential medical complications associated with achondroplasia include lower extremity long bone bowing, middle-ear dysfunction, obstructive sleep apnea, and, more rarely, cervicomedullary compression, hydrocephalus, thoracolumbar kyphosis, and central sleep apnea. This is the second revision to the original 1995 health supervision guidance from the American Academy of Pediatrics for caring for patients with achondroplasia. Read More

Orphanet J Rare Dis 2020 May 25;15(1):123. Epub 2020 May 25.

Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

Background: Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS is 10 to 30%, an estimate based on small studies or selected populations. No population-based studies exist currently. Read More

JNMA J Nepal Med Assoc 2020 Feb;58(222):119-121

Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.

Autosomal dominant mutations in fibroblast growth factor receptor 3 cause achondroplasia, the most common form of dwarfism in humans. Achondroplasia is a genetic disorder causing rhizomelic shortening of limbs. Head is often large with prominent forehead causing vaginal delivery difficult. Read More

PLoS One 2020 13;15(4):e0229639. Epub 2020 Apr 13.

Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Showa-ku, Nagoya, Aichi, Japan.

Achondroplasia (ACH) is the most common short-limbed skeletal dysplasia caused by activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. We identified that meclizine hydrochloride inhibited FGFR3 signaling in various chondrocytic cells and promoted longitudinal bone growth in mouse model of ACH. Meclizine has safely been used for more than 50 years, but it lacks the safety data for repeated administration and pharmacokinetics (PK) when administered to children. Read More

J Thorac Dis 2020 Mar;12(3):998-1006

Division of Cardiothoracic Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

Patients with achondroplasia and other causes of dwarfism suffer from increased rates of cardiovascular disease relative to the remainder of the population. Few studies have examined these patients when undergoing cardiac surgery or percutaneous intervention. This systematic review examines the literature to determine outcomes following cardiac intervention in this unique population. Read More

Intractable Rare Dis Res 2020 Feb;9(1):35-39

School of Medicine and Life Sciences, University of Jinan, Shandong Academy of Medical Sciences, Ji'nan, China.

The goal of this study was to analyze diminishment of the functional status of the skeleton, parts of organs, regions of the brain, connective tissues, and chondrocytes in patients with achondroplasia (ACH), pseudoachondroplasia (PSACH), and rickets. Three-dimensional non-linear scanning (3D-NLS) was used to analyze the functional status of patients with genetic bone disorders, including 7 patients with ACH, 3 patients with PSACH, and 3 patients with rickets. Results indicated that the percentage of patients with long bones in the decompensatory phase did not differ depending on whether they had ACH, PSACH, or rickets. Read More

Sci Rep 2020 Mar 13;10(1):4699. Epub 2020 Mar 13.

Université de Paris, BIOSCAR Inserm U1132 and Department of Rheumatology and Reference Center for Constitutional Bone Diseases, AP-HP Hospital Lariboisière, F-75010, Paris, France.

In achondroplasia, lumbar spinal stenosis arises from congenital dysplasia and acquired degenerative changes. We here aimed to describe the changes of the lumbar spinal canal and intervertebral disc in adults. We included 18 adults (age ≥ 18 years) with achondroplasia and lumbar spinal stenosis. Read More

Ther Adv Endocrinol Metab 2020 3;11:2042018820904016. Epub 2020 Mar 3.

Clinical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, 149 rue de sevres, Paris, 75015, France.

The last few decades have been marked by the identification of numerous genes implicated in genetic disorders, helping in the elucidation of the underlying pathophysiology of these conditions. This has allowed new therapeutic approaches to emerge such as cellular therapy, gene therapy, or pharmacological therapy for various conditions. Skeletal dysplasias are good models to illustrate these scientific advances. Read More

Wien Med Wochenschr 2020 Apr 6;170(5-6):104-111. Epub 2020 Mar 6.

Departments of Paediatrics and Surgery, University of Ottawa, Ottawa, Canada.

Achondroplasia is the most common form of disproportionate short stature. A dominantly inherited FGFR3 mutation permanently activates the fibroblast growth factor receptor 3 (FGFR3) and its downstream mitogen-activated protein kinase (MAPK) signalling pathway. This inhibits chondrocyte differentiation and puts a break on growth plate function, in addition to causing serious medical complications such as foramen magnum and spinal stenosis and upper airway narrowing. Read More

J Orthop Traumatol 2020 Mar 5;21(1). Epub 2020 Mar 5.

Benha University Hospitals, 11 Al Israa Al-Mohandeseen Street, Cairo, Egypt.

Limb lengthening continues to be a real challenge to both the patient and the orthopaedic surgeon. Although it is not a difficult operative problem, there is a long and exhausting postoperative commitment which can jeopardize early good results. I aim to review the history, evolution, biology, complications and current concepts of limb lengthening. Read More

Am J Med Genet A 2020 May 29;182(5):1249-1254. Epub 2020 Feb 29.

Department of Orthopedics and Rehabilitation, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.

Two children with achondroplasia who developed an abnormal bony outgrowth at the distal radioulnar joint (DRUJ), indistinguishable from an osteochondroma on histology, but the radiographic appearance, location, and asymmetry suggested the rare diagnosis of dysplasia epiphysealis hemimelica (DEH or "Trevor's disease"). One child experienced symptomatic relief with surgical excision and one was observed clinically due to lack of significant symptoms. These are the first presented cases of DEH in achondroplasia, both affecting the DRUJ. Read More

Int J Mol Sci 2020 Feb 17;21(4). Epub 2020 Feb 17.

Department of Molecular & Cellular Biochemistry, Osaka University Graduate School of Dentistry1-8 Yamadaoka, Suita, Osaka 565-0871, Japan.

Osteoarthritis and rheumatoid arthritis are common cartilage and joint diseases that globally affect more than 200 million and 20 million people, respectively. Several transcription factors have been implicated in the onset and progression of osteoarthritis, including Runx2, C/EBPβ, HIF2α, Sox4, and Sox11. Interleukin-1 β (IL-1β) leads to osteoarthritis through NF-ĸB, IκBζ, and the Zn-ZIP8-MTF1 axis. Read More

Arch Orthop Trauma Surg 2020 Feb 11. Epub 2020 Feb 11.

Servicio de Cirugía Ortopédica y Traumatología, Hospital Universitario Virgen de la Victoria, Andalusian Public Health Service, Málaga, Andalucía, Spain.

Introduction: Surgical lengthening and angular correction of the limbs are an option for treating the orthopedic clinical manifestations in patients with achondroplasia. This study assesses a staged limb lengthening protocol, performing simultaneous bilateral lengthening of the femur and tibia (stage I [S1]), and humeral lengthening (stage II [S2]).

Materials And Methods: Twenty-one achondroplastic patients were included in this study, and 106 segments (34 femurs, 34 tibias and 38 humeri) were lengthened. Read More

Biomed Rep 2020 Mar 20;12(3):83-88. Epub 2019 Dec 20.

Second Department of Gynecology, Medical University of Lublin, PL-20954 Lublin, Poland.

Infertility and fecundity problems concern 10-18% of partners in their reproductive years compromising around one million females and males in Poland. Research and analysis of factors that affect male fertility are limited, especially, regarding the age of the father and determining the age at which quality of semen decreases. Age of the father has greater impact than maternal age, on cases of sporadic autosomal dominant congenital diseases such as Apert, Crouzon, Pfeiffer, Noonan and Costello syndromes, multiple endocrine neoplasia (types 2A and 2B) and achondroplasia. Read More

Clin Pediatr Endocrinol 2020 9;29(1):25-42. Epub 2020 Jan 9.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

Achondroplasia (ACH) is a skeletal dysplasia that presents with limb shortening, short stature, and characteristic facial configuration. ACH is caused by mutations of the gene, leading to constantly activated FGFR3 and activation of its downstream intracellular signaling pathway. This results in the suppression of chondrocyte differentiation and proliferation, which in turn impairs endochondral ossification and causes short-limb short stature. Read More

JA Clin Rep 2019 Jul 19;5(1):47. Epub 2019 Jul 19.

Department of Anesthesiology, Japan Community Healthcare Organization Tokuyama Central Hospital, 1-1, Koda-cho, Shunan, Yamaguchi, 745-8522, Japan.

Background: Patients with achondroplasia have various airway deformations and spinal anatomic abnormalities; therefore, performing general anesthesia and neuraxial anesthesia in such patients can be challenging.

Case Presentation: A 56-year-old, 112-cm, 30-kg woman was scheduled to undergo partial mastectomy and sentinel lymph node biopsy for cancer of the right breast. She had short limbs, scoliosis, thorax deformation, and chronic moderate to severe mitral regurgitation of the mitral valve. Read More

Mol Genet Genomic Med 2020 Mar 23;8(3):e1148. Epub 2020 Jan 23.

Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Background: Achondroplasia (ACH), the most common form of short-limbed skeletal dysplasia, is caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. More than 97% of patients result from a heterozygous p.G380R mutation in the FGFR3 gene. Read More

Asian J Neurosurg 2019 Oct-Dec;14(4):1231-1235. Epub 2019 Nov 25.

Department of Orthopaedic Surgery, Spine Unit, Institute of Orthopaedics, Lerdsin Hospital, Bangkok, Thailand.

Achondroplasia has an effect on intracartilaginous ossification during the development of the spine resulting in a narrow spinal canal. This abnormal anatomy could make an achondroplastic patient tend to have spinal canal stenosis. We reported a case of congenital spinal canal stenosis with achondroplasia combined with ossified ligamentum flavum (OLF) at the thoracolumbar and lumbar spine, which was treated by decompressive surgery. Read More

Can J Anaesth 2020 Jun 2;67(6):779-780. Epub 2020 Jan 2.

Department of Anesthesiology and Perioperative Medicine, Royal Columbian Hospital, New Westminster, BC, Canada.

Orphanet J Rare Dis 2019 12 30;14(1):300. Epub 2019 Dec 30.

West Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS FT and Birmingham Health Partners, Birmingham, UK.

Background: Rare bone diseases account for 5% of all birth defects yet very few have personalised treatments. Developments in genetic diagnosis, molecular techniques and treatment technologies however, are leading to unparalleled therapeutic advance. This review explores the evolving therapeutic landscape of genetic skeletal disorders (GSDs); the key conditions and there key differentials. Read More

Int J Crit Illn Inj Sci 2019 Oct-Dec;9(4):191-193. Epub 2019 Dec 11.

Department of Anaesthesiology, Pain Medicine and Critical Care, All India Institute of Medical Sciences, New Delhi, India.

A 42-year-old pregnant female, diagnosed with achondroplasia, presented to our trauma center with multiple injuries after being involved in a motor vehicle accident. During her hospitalization, she underwent multiple surgeries and required admission in the intensive care unit. We describe the emergency anesthetic management of this patient, highlighting the effects of skeletal dysplasia on airway, cardiorespiratory system, and ventilatory mechanics. Read More

Semin Fetal Neonatal Med 2020 02 14;25(1):101075. Epub 2019 Dec 14.

Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK; Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. Electronic address:

Neonatal care has significantly improved in the past decade with improved survival of preterm and sick neonates. Similarly, the field of bone and mineral disorders is continuing to accelerate with better understanding of pathophysiology and genetic basis of diseases, as well as availability of newer diagnostic and therapeutic modalities. In this extensive and rapidly expanding field, metabolic bone disease specialists are frequently called upon to translate progress into better care for neonates with bone and mineral disorders. Read More

AJNR Am J Neuroradiol 2020 02 19;41(2):338-342. Epub 2019 Dec 19.

From the Departments of Medical Imaging (H.M.P., A.M.F., S.K.).

Achondroplasia is the result of a mutation in the gene (). Appearances suggestive of macrocerebellum have not been described in this patient group. We retrospectively reviewed MR imaging studies of the brain in 23 children with achondroplasia. Read More

J Cerebrovasc Endovasc Neurosurg 2019 Mar 31;21(1):33-39. Epub 2019 Mar 31.

Department of Neurosurgery, Deajeon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Daejeon, Republic of Korea.

Background: Achondroplasia is one of the most common types of dwarfism and is inherited as an autosomal dominant disease. The patients with achondroplasia suffer from various complications such as craniofacial, central nervous system, spinal, respiratory and cardiac anomalies.

Case Description: We report a case of a 35-year-old man with achondroplasia who visited the emergency room with right hemiplegia and aphasia within 6 hours after onset. Read More

Eur J Med Genet 2020 Apr 4;63(4):103816. Epub 2019 Dec 4.

Service of Genetic Medicine, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. Electronic address:

Skeletal dysplasias are a large and heterogeneous group of conditions that affect growth and development of the skeleton. As might be expected, short stature is a frequent manifestation of these disorders but other complications do occur with varying frequencies depending on specific diagnosis and age of the patient. With the ongoing development of targeted therapies for achondroplasia and possibly other skeletal dysplasias, it is important to ascertain what are the factors influencing quality of life if we are to make meaningful assessments of therapeutic efficacy. Read More

Br J Neurosurg 2019 Dec 2:1-3. Epub 2019 Dec 2.

Hull Royal Infirmary, Hull, United Kingdom.

Achondroplasia is a genetic disorder known for short stature and skeletal abnormalities. We present a case of narrowing of the foramen magnum from a large opisthion extending to the spinal canal. Foramen magnum stenosis and cervicomedullary stenosis are potentially life threatening neurological manifestations of achondroplasia. Read More

Curr Opin Endocrinol Diabetes Obes 2020 Feb;27(1):82-86

Division of Pediatric Endocrinology, University of Washington and Seattle Children's Hospital, Seattle, Washington, USA.

Purpose Of Review: To discuss treatments used to enhance growth in pediatric patients with short stature.

Recent Findings: New data confirm the known efficacy of recombinant human growth hormone (rhGH) in growth hormone deficiency (GHD) and idiopathic short stature. The latest data from the Safety and Appropriateness of Growth hormone Treatment in Europe cohort did not indicate a long-term risk of malignancy in those treated for isolated GHD, but possibly increased risk in those with other diagnoses. Read More

Curr Neurol Neurosci Rep 2019 11 28;19(12):105. Epub 2019 Nov 28.

Neurology and Pediatrics, Mayo Clinic School of Medicine, Rochester, USA.

Purpose Of Review: This review is to delineate the neurological complications seen in patients with achondroplasia.

Recent Findings: As the understanding of the genetics of this disorder has advanced, the possibility of targets for intervention which might modify the development and management of the neurological complications of this disease may be identified. Achondroplasia is a hereditary short-limbed dwarfism which has been known for millennia. Read More

Pediatr Clin North Am 2020 02;67(1):23-43

Orthopedic Surgery, Monmouth Medical Center, Long Branch, NJ, USA.

A wide of array of patients with genetic and metabolic conditions present with orthopedic manifestations. This article discusses the most common conditions seen in a typical pediatric orthopedic practice. A few pearls are highlighted for each condition to alert practitioners to some of the pitfalls encountered when treating these often highly challenged children. Read More

Pediatr Radiol 2020 02 27;50(2):224-233. Epub 2019 Nov 27.

Department of Radiology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., MLC 5031, Cincinnati, OH, 45229, USA.

Background: Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; however, related literature is limited.

Objective: The purpose of this study was to define the utility of fetal MRI for skeletal dysplasias and to report MRI findings associated with specific diagnoses.

Materials And Methods: This retrospective study was approved by the institutional review board; informed consent was waived. Read More

J Pediatr Orthop 2019 Nov 14. Epub 2019 Nov 14.

Department of Orthopaedic Surgery.

Background: The use of modern rigid instrumentation in pediatric cervical fusions decreases the risk of implant-related complications, both acute and long term. However, previous studies have indicated that acute implant-related issues still occur in the adult population. Reports of pediatric acute implant complications, occurring within 3 months of surgery, are under-represented in the literature. Read More

Am J Med Genet A 2020 01 15;182(1):150-161. Epub 2019 Nov 15.

Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland.

Hypertension, compounded by obesity, contributes to cardiovascular disease and mortality. Data describing hypertension prevalence in adults with short stature skeletal dysplasias are lacking, perhaps due to poor fit of typical adult blood pressure cuffs on rhizomelic or contracted upper extremities. Through health screening research, blood pressure was measured in short stature adults attending support group meetings and skeletal dysplasia clinics. Read More

Orphanet J Rare Dis 2019 11 14;14(1):253. Epub 2019 Nov 14.

Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France.

Achondroplasia is a rare genetic disease representing the most common form of short-limb dwarfism. It is characterized by bone growth abnormalities that are well characterized and by a strong predisposition to abdominal obesity for which causes are unknown. Despite having aroused interest at the end of the 20 h century, there are still only very little data available on this aspect of the pathology. Read More

Proc Jpn Acad Ser B Phys Biol Sci 2019 ;95(9):538-567

Medical Innovation Center, Kyoto University Graduate School of Medicine.

Translation is the process of turning observations in the laboratory, clinic, and community into interventions that improve the health of individuals and the public, ranging from diagnostics and therapeutics to medical procedures and behavioral changes. Translational research is defined as the effort to traverse a particular step of the translation process for a particular target or disease. Translational science is a newly emerging science, distinct from basic and clinical sciences in biology and medicine, and is a field of investigation focused on understanding the scientific and operational principles underlying each step of the translational process. Read More

Curr Opin Pediatr 2019 12;31(6):691-693

The Department of Genetics.

Am J Med Genet A 2020 01 6;182(1):146-149. Epub 2019 Nov 6.

Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.

There are virtually no data regarding appropriate oral intake in infants with dwarfing disorders such as achondroplasia, nor is there clear information regarding appropriate weight gain velocity in this population. Yet, these individuals are at increased risk for both early failure to thrive and, later in life, for obesity. Having appropriate expectations regarding weight gain and reasonable goals in management is imperative. Read More

Medicine (Baltimore) 2019 Nov;98(44):e17723

Department of Orthopaedics, Akron Children's Hospital, Akron.

Current surgical options for treating genu varum in achondroplasia include tibial and fibular osteotomy and growth modulation using plates and screws. However, a single surgeon consistently treated genu varum using a planned fibular nonunion (PFN). The purpose of this study is to describe his surgical technique and report radiographic and clinical outcomes for the cohort studied. Read More

Spine (Phila Pa 1976) 2019 Nov;44(22):1564-1570

Phoenix Children's Hospital, Phoenix, AZ.

Study Design: Retrospective cohort study.

Objective: Evaluate the trends in management and inpatient outcomes in patients with syndromic scoliosis undergoing spinal deformity correction.

Summary Of Background Data: Syndromic scoliosis (SS) refers to scoliosis that is most commonly associated with systemic disease including Ehler Danhlos syndrome (EDS), Marfan syndrome (MF), Down syndrome (DS), Achondroplasia (AP), and Prader-Willi syndrome (PWS). Read More

J Orthop 2019 Nov-Dec;16(6):522-525. Epub 2019 May 25.

Department of Histology and Embryology, School of Medicine, Ankara Yıldırım Beyazıt University, Ankara, Turkey.

Osteoarthritis (OA) is a common, chronic, progressive, and multifactorial musculoskeletal system disease affecting millions of people around the world. Despite the use of several treatment modalities, the search for a disease modifying drug continuous. Recent evidence suggest involvement of C-type natriuretic peptide (CNP) signaling in induction of chondroprotective pathways. Read More

Z Orthop Unfall 2019 Oct 21. Epub 2019 Oct 21.

Clinic and Polyclinic for Orthopedics and Trauma Surgery, University Hospital Bonn.

Purpose: Hip screening sonography according to Graf in rare cases yields the appearance of a double femoral head, aptly named the Double-Head-Sign. The goal of this retrospective study is to offer a definition of this rare sign, evaluate its incidence of occurrence and compare the sonographic findings with the clinical findings.

Materials And Methods: This Double-Head-Sign is caused by the overlap of the trochanter major with the actual head of the femur in cases of coxa vara. Read More

Ultrasound Obstet Gynecol 2020 Jan 8;55(1):75-80. Epub 2019 Oct 8.

Fetal Medicine Research Institute, King's College Hospital, London, UK.

Objective: To investigate the potential value of routine ultrasound examination at 35-37 weeks' gestation in the diagnosis of previously unknown fetal abnormalities.

Methods: This was a prospective study of 52 400 singleton pregnancies attending for a routine ultrasound examination at 35 + 0 to 36 + 6 weeks' gestation; all pregnancies had a previous scan at 18-24 weeks and 47 214 also had a scan at 11-13 weeks. We included pregnancies resulting in live birth or stillbirth but excluded those with known chromosomal abnormality. Read More

N Engl J Med 2019 09;381(13):1291-1292

BioMarin, London, United Kingdom.

N Engl J Med 2019 09;381(13):1291

Masaryk University, Brno, Czech Republic

Orthop Traumatol Surg Res 2019 11 18;105(7):1297-1301. Epub 2019 Sep 18.

University of Alabama at Birmingham Hospital, Department of Orthopaedic Surgery, 1313 13(th) St S, Birmingham, AL, 35205, US. Electronic address:

Introduction: Musculoskeletal dysplasias (MSD) are inherited conditions of abnormal cartilage and bone development and remodeling which include, amongst others, multiple epiphyseal dysplasia (MED), spondyloepiphyseal dysplasia (SED), achondroplasia, and hypochondroplasia. The aim of this study was to compare patient characteristics and in-hospital complications between MSD and non-MSD patients undergoing total joint arthroplasty (TJA).

Hypothesis: MSD patients undergoing TJA are at increased risk of in-hospital post-operative complications and mortality compared to non-MSD patients. Read More

Int J Pediatr Otorhinolaryngol 2019 Dec 2;127:109665. Epub 2019 Sep 2.

Oto-rhino-laryngologie et chirurgie cervico-faciale Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France; Inserm U955 eq 13, Créteil, France; Université Paris Descartes, Paris, France.

Introduction: acoustic rhinometry (AR) is a non-invasive method measuring the nasal volume (NV) and the nasal minimal cross-sectional area (MCA), reflecting nasal obstruction. The first objective of this study was to measure and compare NV and MCA between 3 groups of children: "achondroplasia", "Down syndrome" and "control". The control group corresponded to children with suspicion of sleep disorder disease and without cranio-facial malformation. Read More

Asian J Neurosurg 2019 Jul-Sep;14(3):883-885

Department of Neurosurgery, Neurosciences Centre, AIIMS, New Delhi, India.

Achondroplasia represents the common variety of skeletal dysplasia causing short-limb dwarfism. It may be associated with congenial craniovertebral junction anomaly, including atlantoaxial dislocation, Os odointoideum or basilar invagination or acquired as a result of the previous foramen magnum region surgery. However, long segment cervical compression from the first cervical vertebra region to sixth cervical region, such extensive compression producing myelopathy is not reported, and current case represents first case in the western literature. Read More

Anaesth Intensive Care 2019 Sep 7;47(5):474-475. Epub 2019 Sep 7.

Division of Critical Care Medicine, Department of Anesthesiology, Cooper Medical School of Rowan University, Cooper University Hospital, Camden, USA.

J Child Orthop 2019 Aug;13(4):409-416

Rebecca D. Considine Research Institute/Akron Children's Hospital, Akron, Ohio, USA.

Purpose: In 1959, Maroteaux and Lamy initially designated pseudoachondroplasia as a distinct dysplasia different from achondroplasia the most common form of skeletal dysplasia. Pseudoachondroplasia is caused by a mutation in the collagen oligomeric matrix protein gene (COMP) gene on chromosome 19p13.1-p12 encoding the COMP. Read More

Exp Mol Pathol 2019 12 30;111:104297. Epub 2019 Aug 30.

Pneumology Department of the Children's Hospital of Fudan University, Shanghai, China. Electronic address:

We present a case report that entails prenatal ultrasonography, postnatal characteristics, and molecular genetic analysis of a newborn who presented with thanatophoric dysplasia type I (TDI) with a mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A malformed newborn with tachypnea, delivered by caesarean at the gestational age of 39 weeks, was the first child of nonconsanguineous parents by a spontaneous pregnancy. Features in prenatal ultrasonography and postnatal radiography were consistent with the diagnosis of TDI, presenting with short body length (38 cm, <3rd percentile), redundant skin folds, a narrow thorax with a bust of 29. Read More