Sci Rep 2017 Jul 14;7(1):5459. Epub 2017 Jul 14.

Institut für Spezielle Zoologie und Evolutionsbiologie mit Phyletischem Museum, Friedrich-Schiller-Universität, Erbertstrasse 1, 07743, Jena, Germany.

Hairless dog breeds show a form of ectodermal dysplasia characterised by a lack of hair and abnormal tooth morphology. This has been attributed to a semi-dominant 7-base-pair duplication in the first exon of the forkhead box I3 gene (FOXI3) shared by all three breeds. Here, we identified this FOXI3 variant in a historical museum sample of pedigreed hairless dog skulls by using ancient DNA extraction and present the associated dental phenotype. Read More

J Prosthet Dent 2017 Jul 11. Epub 2017 Jul 11.

Assistant Professor, Postgraduate Program in Prosthodontics, Faculty of Dentistry, Andres Bello National University, Santiago, Chile.

Ectodermal dysplasia is a heterogeneous genetic condition affecting 1.6 to 22 per 100000 people. Oral manifestations associated with this condition include hyperdontia, hypodontia, microdontia, and conical teeth. Read More

J Clin Immunol 2017 Jul 12. Epub 2017 Jul 12.

Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan.

Purpose: Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is caused by mutations in the NF-κB essential modulator (NEMO) or NF-κB inhibitor, alpha (IKBA) genes. A heterozygous NEMO mutation causes incontinentia pigmenti (IP) in females, while a hemizygous hypomorphic mutation of NEMO causes EDA-ID in males. In general, immunodeficiency is not shown in IP patients. Read More

Am J Med Genet A 2017 Jul 10. Epub 2017 Jul 10.

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disorder that affects ectodermal structures and presents with a characteristic facial appearance. The ability of automated facial recognition technology to detect the phenotype from images was assessed . In Phase 1 of this study we examined if the age of male patients affected the technology's recognition. Read More

J Biol Regul Homeost Agents 2017 Apr-Jun;31(2 Suppl 1):61-65

Department of Medicine and Surgery, Research Centre into Paediatric Dentistry and Rare Syndromes, University of Insubria, ASST dei Sette Laghi, Dental Clinic, Varese, Italy.

The Acro-Dermato-Ungual-Lacrimal-Tooth syndrome (ADULT syndrome) is one of the rarest ectodermal dysplasias and it is associated with several malformations involving especially the limbs. The most clinical features are the presence of ectrodactyly, syndactyly, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, hypotrichosis and frontal alopecia, hypohydrosis, cutaneous photosensitivity, nasal bridge prominence, exfoliative dermatitis and xerosis. The ectodermal dysfunction expresses itself with conoid teeth, enamel hypoplasia, dentinal dysplasia and especially hypodontia, with following functional and aesthetic defects. Read More

Mol Syndromol 2017 Jun 13;8(4):201-205. Epub 2017 Apr 13.

Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.

The TP63 gene has been described in 5 overlapping limb malformation disorders, including a rare autosomal dominant ectodermal disorder named acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. This article describes 2 patients with ectrodactyly and variable features related to ectodermal dysplasia/ADULT syndrome, and the polymorphism rs16864880 in the TP63 gene, which was not present in their parents. The role of this variant in the genesis of this condition is discussed, based upon a review of 40 cases. Read More

Blood 2017 Jul 5. Epub 2017 Jul 5.

Study Center for Immunodeficiencies, Assistance Publique-Hopitaux de Paris (APHP), Necker Hospital for Sick Children, Paris, France;

X-linked recessive ectodermal dysplasia (EDA) with immunodeficiency (XR-EDA-ID) is a rare primary immunodeficiency (PID) caused by hypomorphic mutations of the IKBKG gene encoding the NEMO protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and non-hematopoietic cells. Hematopoietic stem cell transplantation (HSCT) is potentially life-saving, but the small number of case reports available suggests that it has been reserved for only the most severe cases. Read More

J Biol Chem 2017 Jun 27. Epub 2017 Jun 27.

Eye Institute of Xiamen University, China;

The EDA gene encodes ectodysplasin A (Eda) which if mutated causes X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) disease in humans. Ocular surface changes occur in XLHED patients while its underlying mechanism remains elusive. In this study, we found Eda was highly expressed in meibomian glands, and it was detected in human tears but not serum. Read More

J Allergy Clin Immunol 2017 Jun 17. Epub 2017 Jun 17.

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass. Electronic address:

Background: Autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency (AD EDA-ID) is caused by heterozygous point mutations at or close to serine 32 and serine 36 or N-terminal truncations in IκBα that impair its phosphorylation and degradation and thus activation of the canonical nuclear factor κ light chain enhancer of activated B cells (NF-κB) pathway. The outcome of hematopoietic stem cell transplantation is poor in patients with AD EDA-ID despite achievement of chimerism. Mice heterozygous for the serine 32I mutation in IκBα have impaired noncanonical NF-κB activity and defective lymphorganogenesis. Read More

Spec Care Dentist 2017 Jul 9;37(4):204-208. Epub 2017 Jun 9.

Professor, Paediatric Dentistry, School of Dentistry, The University of Western Australia, Australia.

Schöpf-Schulz-Passarge syndrome (SSPS) is thought to be a rare autosomal recessive condition similar to many other ectodermal dysplasias. Diagnosis is difficult, with many possible differential diagnoses; however, eyelid cysts are a commonly seen feature. This clinical report aims to highlight this and describe the dental features and management of this syndrome, which existing literature has not previously described. Read More

J Clin Immunol 2017 Jul 9;37(5):397-412. Epub 2017 Jun 9.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, USA.

Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Fourteen unrelated patients have been reported since the identification of the first case in 2003. All mutations enhanced the inhibitory activity of IκBα, by preventing its phosphorylation on serine 32 or 36 and its subsequent degradation. Read More

Nat Commun 2017 Jun 7;8:15397. Epub 2017 Jun 7.

Department of Dermatology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

Human WNT10A mutations are associated with developmental tooth abnormalities and adolescent onset of a broad range of ectodermal defects. Here we show that β-catenin pathway activity and adult epithelial progenitor proliferation are reduced in the absence of WNT10A, and identify Wnt-active self-renewing stem cells in affected tissues including hair follicles, sebaceous glands, taste buds, nails and sweat ducts. Human and mouse WNT10A mutant palmoplantar and tongue epithelia also display specific differentiation defects that are mimicked by loss of the transcription factor KLF4. Read More

Indian J Dermatol Venereol Leprol 2017 Jul-Aug;83(4):517

[This corrects the article DOI: 10.4103/ijdvl.IJDVL_411_16]. Read More

Geburtshilfe Frauenheilkd 2017 Apr;77(4):377-382

Universitätsklinikum Erlangen, Kinder- und Jugendklinik, Kompetenzzentrum für Ektodermale Dysplasien, Erlangen, Germany.

Background X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia, is caused by mutations in the gene EDA. While only affected men develop the full-blown clinical picture, females who are heterozygous for an EDA mutation often also show symptoms such as hypodontia, hypotrichosis and hypohidrosis. These women may also suffer from malformations of the mammary gland which represent not just a cosmetic problem but can limit their breastfeeding capability. Read More

Clin Exp Dermatol 2017 Jul 22;42(5):585-589. Epub 2017 May 22.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Indian J Dermatol Venereol Leprol 2017 Jul-Aug;83(4):476-479

Department of Molecular Biology and Genetic, Faculty of Life Sciences, Mugla Sitki Kocman University, Mugla, Turkey.

Am J Med Genet A 2017 May 17. Epub 2017 May 17.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.

The cardinal features of Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and limb anomalies. EEC and AEC are caused by heterozygous mutations in the transcription factor p63 encoded by TP63. Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay. Read More

CEN Case Rep 2016 May 19;5(1):67-69. Epub 2015 Sep 19.

Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain.

Cystinuria is a genetic cause of kidney stones with a prevalence of 1 in 7000 births. So far, two genes have been described responsible for this disorder (SLC3A1 and SLC7A9). We report a patient with an SLC7A9 gene mutation located in 19q13. Read More

Acta Derm Venereol 2017 May 12. Epub 2017 May 12.

Department of Dermatology, No.1 Hospital of China Medical University, 155 North Nanjing Street, Shenyang 110001, China.

Ann Plast Surg 2017 Jun;78(6):684-691

From the *Department of Plastic and Cosmetic Surgery, Gansu Provincial Hospital, Lanzhou; †Department of Plastic & Reconstructive Surgery, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai; and ‡Plastic Surgery Hospital (Institute), Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, P.R. China.

Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. Read More

J Dermatol 2017 Apr 26. Epub 2017 Apr 26.

Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

Int J Trichology 2016 Oct-Dec;8(4):184-185

Department of Dermatology, Marília's Medical School, FAMEMA, Brazil.

Aplasia cutis congenita (ACC) is a rare disorder characterized by localized absence of skin that most commonly affects the scalp. We present a case of ACC in a 45-day-old girl and the dermoscopic findings. Dermoscopy has shown to be an easy, fast and useful method for the diagnosis of this condition. Read More

Eur J Obstet Gynecol Reprod Biol 2017 Jun 10;213:146-147. Epub 2017 Apr 10.

Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China. Electronic address:

Biochem Soc Trans 2017 Apr;45(2):401-408

Department of Cell Biology, Albert Einstein College of Medicine, New York, NY 10461, U.S.A.

Here, we describe a recently discovered O-GlcNAc transferase termed EOGT for EGF domain-specific O-GlcNAc transferase. EOGT transfers GlcNAc (N-acetylglucosamine) to Ser or Thr in secreted and membrane proteins that contain one or more epidermal growth factor-like repeats with a specific consensus sequence. Thus, EOGT is distinct from OGT, the O-GlcNAc transferase, that transfers GlcNAc to Ser/Thr in proteins of the cytoplasm or nucleus. Read More

BMC Med Genet 2017 Apr 12;18(1):42. Epub 2017 Apr 12.

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.

Background: Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to date, five different forms of PHNED have been reported at molecular level, having three genes known and two loci with no gene yet. Read More

Bull Tokyo Dent Coll 2017 ;58(1):49-56

Private Practice.

Ectodermal dysplasia (ED) is an anomaly determined by genetic factors that alter ectodermal structures such as skin, hair, nails, glands, and teeth. Children affected by this condition require extensive, comprehensive, and multidisciplinary treatment. An 8-year-old female patient visited the Dentistry Clinic of the Federal University of Santa Catarina with the chief complaint of multiple missing teeth. Read More

Arq Bras Oftalmol 2017 Jan-Feb;80(1):49-51

Department of Ophthalmology and Visual Sciences, University of Wisconsin, Wisconsin, USA.

Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade of life. It is associated with mutations of the cadherin 3 (CDH3) gene, which result in abnormal expression of P-cadherin. Mutations in CDH3 are related to ectodermal dysplasia, ectrodactyly, and macular dystrophy. Read More

Int J Clin Pediatr Dent 2017 Jan-Mar;10(1):55-61. Epub 2017 Feb 27.

Professor, Department of Mathematics, Faculty of Sciences, Lebanese University, Beirut, Lebanon.

Aims: Severe oligodontia is one of the most important symptoms in children with hypohidrotic ectodermal dysplasia (HED). The growth of the maxilla is a key consideration in restoring their mouth. The aim of this study was to evaluate the transversal maxillary sutural growth, after passive masticatory stimulation, in HED children. Read More

Am J Med Genet A 2017 May 28;173(5):1378-1382. Epub 2017 Mar 28.

Department of Human Genetics, University of Chicago, Chicago, Illinois.

CHIME syndrome is a rare autosomal recessive neuroectodermal disorder associated with biallelic mutations in PIGL. To date, six molecularly confirmed cases of CHIME syndrome have been reported. Here, we report the seventh patient with biallelic PIGL mutations associated with CHIME syndrome and describe the first characterization of an intragenic deletion in PIGL. Read More

Am J Med Genet A 2017 May 28;173(5):1186-1189. Epub 2017 Mar 28.

Department of Medical Genetics, Skeletal Dysplasia Group, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.

Since most short-rib polydactyly phenotypes are due to genes involved with biogenesis and maintenance of the primary cilium, this group of skeletal dysplasias was recently designated as ciliopathies with major skeletal involvement. Beemer-Langer syndrome or short-rib polydactyly type IV, was first described in 1983, and has, thus far, remained without a defined molecular basis. The most recent classification of the skeletal dysplasias referred to this phenotype as an as-yet unproven ciliopathy. Read More

Int J Mol Cell Med 2016 23;5(4):260-263. Epub 2016 Oct 23.

Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. Here we describe a novel acceptor splice site mutation c. Read More

Am J Med Genet A 2017 May 23;173(5):1364-1368. Epub 2017 Mar 23.

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Read More

Genet Med 2017 Mar 16. Epub 2017 Mar 16.

Department of Medical Genetics, Lille University Hospital, CHU Lille, Lille, France.

Purpose: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown.

Methods: We recruited 11 patients from 8 families and performed exome sequencing for 5 families with de novo BCD syndrome cases and targeted Sanger sequencing in the 3 remaining families. Read More

An Bras Dermatol 2016 Sep-Oct;91(5 suppl 1):54-56

Instituto de Dermatologia Professor Rubem David Azulay - Santa Casa da Misericórdia do Rio de Janeiro (IDPRDA - SCMRJ) - Rio de Janeiro (RJ), Brazil.

Phacomatosis pigmentovascularis is a rare syndrome, defined as the simultaneous presence of vascular nevus and melanocytic nevus in the same patient. We report the case of a 53-year-old woman presented with dermal melanosis and extensive vascular nevus, which match the typical manifestations of phakomatosis pigmetovascularis of cesioflammea type, according to Happle's classification. The rare occurrence of this genodermatosis and the clinical exuberance of the skin lesions motivated this case report. Read More

An Bras Dermatol 2016 Sep-Oct;91(5 suppl 1):51-53

Universidade do Estado do Rio de Janeiro (UERJ) - Rio de Janeiro (RJ), Brazil.

Steatocystoma multiplex is a rare genetic disorder characterized by the presence of hamartomatous malformations at the junction of the pilosebaceous duct. It consists of encapsulated cystic lesions in the dermis, with adjacent sebaceous gland. When associated with inflammation, resembling hidradenitis, it is called steatocystoma multiplex suppurativa, a condition rarely reported. Read More

J Clin Exp Dent 2017 Mar 1;9(3):e494-e497. Epub 2017 Mar 1.

Professor & HOD, Department of Pedodontics and Preventive Dentistry, Dr. R. Ahmed Dental College and Hospital, Kolkata, West Bengal, India.

Tricho-dento-osseous syndrome (TDO), an uncommon form of ectodermal dysplasia is an autosomal dominant genetic disorder which is characterized by inherited defects in tissues arising from epithelial-mesenchymal interaction. Genetic studies have revealed that it is caused by mutation in the DLX3 gene. TDO presents with a great phenotypic heterogeneity and studies have suggested that this heterogeneity is the result of environmental factors or other genetic modifiers. Read More

Pediatr Dermatol 2017 Mar;34(2):172-175

Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas.

Pure hair and nail ectodermal dysplasia (PHNED) is a rare disorder that presents with hypotrichosis and nail dystrophy while sparing other ectodermal structures such as teeth and sweat glands. We describe a homozygous novel missense mutation in the HOXC13 gene that resulted in autosomal recessive PHNED in a Hispanic child. The mutation c. Read More

Plast Reconstr Surg Glob Open 2016 Dec 22;4(12):e1185. Epub 2016 Dec 22.

Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka, Japan; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan; and Section of Molecular Craniofacial Embryology, Graduate School of Medical and Dental Sciences, Tokyo, Japan.

A patient who had ectrodactyly, dry skin, exfoliative dermatitis, and hypodontia with peg-shaped teeth, but not cleft lip and palate, is described. Ectrodactyly with a tooth anomaly is recognized in both acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome. These 2 syndromes are caused by heterozygous mutations in the transcriptional factor gene p63. Read More

Gen Dent 2017 Mar-Apr;65(2):66-69

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome-a complex, pleiotropic disorder resulting in multiple congenital anomalies-has an unpredictable clinical expression and is typically manifested as an autosomal-dominant trait. This article presents a rare case of oligosymptomatic EEC syndrome in a 19-year-old man who exhibited atypical dental findings but no cleft lip or palate. This article is intended to create awareness about this rare syndrome and highlight the role of oral healthcare specialists in improving the quality of life for patients with EEC. Read More

Ann Dermatol 2017 Feb 3;29(1):91-94. Epub 2017 Feb 3.

Department of Dermatology, Wonju Severance Christian Hospital, Yonsei University Wonju College of Medicine, Wonju, Korea.

Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right leg and the right trunk, and syndactyly of the right fourth and fifth toes. Read More

Indian Dermatol Online J 2017 Jan-Feb;8(1):35-38

Department of Dermatology, Venereology and Leprosy, Rajendra Institute of Medical Sciences, Ranchi, India.

Eccrine syringofibroadenoma is a very rare benign tumour of acrosyringium of eccrine sweat duct. Based on the evidences of known etiological factors, two forms have been proposed; reactive and nonreactive. Reactive forms are rarer, and on even rarer occasions, trauma complicated by secondary nonspecific infections may lead to the development of reactive eccrine syringofibroadenoma, as in our case. Read More

J Oral Maxillofac Surg 2017 May 20;75(5):939-954. Epub 2017 Jan 20.

Clinical Assistant Professor, Implant Center for Edentulism and Jawbone Atrophies, Maxillo-Facial and Odontostomatology Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

Ectodermal dysplasia (ED) is an inherited disorder characterized by abnormality of ectodermally derived structures. A recurrent oral finding is oligodontia, which in turn leads to a severely hypotrophic alveolar process with typical knife-edge morphology and adverse ridge contours. This unfavorable anatomy can seriously hamper proper implant placement. Read More

Cutis 2017 Jan;99(1):E4-E7

Federal University of Minas Gerais School of Medicine, Belo Horizonte, Brazil.

Br J Dermatol 2017 Feb 9. Epub 2017 Feb 9.

Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain.

Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is an autosomal recessive genodermatosis characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. ED-SFS is caused by mutations in the PKP1 gene encoding pakophilin-1 (PKP1), which results in desmosomal abnormality and poor intercellular cohesion between the epidermal cells. We report a case of a 2-year-old girl with unilateral superficial erosions, plantar keratoderma and nail dystrophy, all showing a Blaschko-linear arrangement. Read More

Clin Dysmorphol 2017 Apr;26(2):78-82

aManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre bDepartment of Burns and Plastic Surgery, Royal Manchester Children's Hospital, Central Manchester NHS Foundation Trust cDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester dDepartment of Paediatrics, Royal Preston Hospital, East Lancashire Teaching Hospitals Trust, Preston, UK.

The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. Read More

Dev Med Child Neurol 2017 May 4;59(5):544-549. Epub 2017 Feb 4.

Division of Neuroscience & Experimental Psychology, Faculty of Biological, Medical & Health Sciences, University of Manchester and Royal Manchester Children's Hospital and Manchester Academic Health Sciences Centre, Manchester, UK.

Aim: To investigate the cognitive and behavioural phenotype in rare disorders of the Ras/MAPK pathway, namely Noonan, cardiofaciocutaneous (CFC), and Costello syndromes, particularly prevalence of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD).

Method: Fifty children were recruited over 10 months through the regional genetics service and advertisements. A range of parent, child, and observational measures were administered including Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Scale. Read More

BMJ Case Rep 2017 Jan 31;2017. Epub 2017 Jan 31.

Pediatric Hospital of Coimbra, Coimbra, Portugal.

JAMA 2017 01;317(3):261

Department of Health Care Policy, Harvard University, Boston, Massachusetts