title: How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
abstract: We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some fingers and toes. He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial septal defect, seizures, hearing impairment, and dysmorphic features consisting of microcephaly, a prominent metopic ridge, upslanting palpebral fissures, synophrys, enophthalmia, large ears, a bulbous nose, a high palate, a smooth and short philtrum, a low hanging columella, a thin upper vermillion, an everted lower lip, prognathism, pectum excavatum, and supernumerary nipples. Osteotendinous reflexes were brisk. Mild nystagmus, myopia, and astigmatia were also noted. Total body X-rays showed short terminal phalanges of the hands, short middle phalanges of the index and little fingers, clinodactyly of the little fingers, short and fused proximal 4th and 5th metacarpals of the right hand, a short 5th metacarpal of the left hand, a fused left lunate-triquetrum, fused capitate-hamates, a prominent mandibula, and partial sacral agenesis. A thin posterior corpus callosum was apparent by MRI. Differential diagnoses for mainly the Rubinstein-Taybi syndrome, the Tsukahara syndrome, the Filippi syndrome, the Feingold syndrome, and the Tonoki syndrome are discussed, and the possibility that we might be reporting a novel entity is raised. © 2011 Wiley-Liss, Inc.
authors.affiliation: Institut Jérôme Lejeune, Paris, France.
authors.forename: Aimé
authors.initials: A
authors.lastname: Ravel
authors.forename: Eliane
authors.initials: E
authors.lastname: Chouery
authors.forename: Samantha
authors.initials: S
authors.lastname: Stora
authors.forename: Nadine
authors.initials: N
authors.lastname: Jalkh
authors.forename: Laurent
authors.initials: L
authors.lastname: Villard
authors.forename: Samia
authors.initials: S
authors.lastname: Temtamy
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
mesh_terms: D000293:Adolescent; D059327:Brachydactyly; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000235:genetics; D004380:Duodenal Obstruction / Q000175:diagnosis; D004933:Esophageal Atresia / Q000175:diagnosis; D005143:Eyelids / Q000002:abnormalities; D019066:Facies; D005532:Foot Deformities, Congenital / Q000175:diagnosis; D006130:Growth Disorders / Q000175:diagnosis; D006228:Hand Deformities, Congenital / Q000175:diagnosis; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D017880:Limb Deformities, Congenital / Q000175:diagnosis; D008297:Male; D008831:Microcephaly / Q000175:diagnosis; D020125:Mutation, Missense / Q000235:genetics; D009264:Nails, Malformed / Q000175:diagnosis; D010641:Phenotype; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis; D013576:Syndactyly / Q000175:diagnosis; D013577:Syndrome; D014138:Tracheoesophageal Fistula; D014157:Transcription Factors / Q000235:genetics
chemical_list: C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors