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Copyright V. Ventruto / A. Di Luccio Genus database 26870 Winter-Harding syndrome Eponyms: Inheritance: pachygyria-joint contractures-facial abnormalities supposed autosomal recessive Semeiological Arthro-facio-neuro-respiratory disorder. Stillbirth, dysmorphic facies, neuromuscular abnormalities, joint contractures, hypoplastic lungs, pachygyria, poor foetal movement. Synthesis: Group Sub group Signs: DERMATOLOGICAL DISORDERS hair, changes hair, upsweep JOINT DISORDERS joint, mobility reduction contractures, joint stifness, not including: arthrogriposis, camptodactyly NEUROLOGICAL DISORDERS brain anomalies macrogyria, pachygyria (brain gyrus modified) with a simplified convolutional pattern neurological dysfunctions neuronal migration, disorders OCULAR DISORDERS eyelids, anomalies blepharophymosis OROCRANIOFACIAL ANOMALIES external ear malformations ear lobe, hypoplastic, small, poorly shaped, dysplastic pinnae ear lobe, malformed, unspecified type ear lobe, nodules, swelling facies, modified appearance dysmorphic face facies, flat, including Potter facies forehead-orbital region, changes hypertelorism nose, modified appearance choanal atresia nasal bridge, nasal root, depressed, flat, saddle-nose OTHERS supergroups arthro-facio-respiratory-skeletal disorders arthro-facio-skeletal disorders arthro-neuro-skeletal disorders cutaneous-facio-neuro-oculo disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by ultrasound techniques foetal movements decreased, foetal akinesia, foetal hypokinesia prenatal diagnosis prenatal diagnosis, echographic RESPIRATORY DISORDERS respiratory structures, thorax defect lung hypoplasia, lung structural defects, immaturity SKELETAL DISORDERS fontanelles-sutures,changes fontanelles, cranial sutures, closure delayed Winter-Harding syndrome Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database hand-foot, changes club foot, talipes, pes equinovarus limb anomalies, limb defects lethality, in malformations, no chondrodystrophy, no chromosomopathies skull shape, changes brachycephaly UROLOGICAL DISORDERS kidney, malformations kidney, malformation, including horseshoe kidney Super group: arthro-facio-respiratory-skeletal disorders arthro-neuro-skeletal disorders cutaneous-facio-neuro-ocular disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by ultrasound techniques Aggregations: LETHALITY lethality in plurimalformations, not including chondrodystrophy or chromosomopathies OTHER craniofacial dysmorphism due to cranial changes, including microcephaly dysmorphic face neuronal migration disorders Differential diagnosis: 10 Aarskog syndrome 16635 bilateral frontoparietal polymicrogyria 2310 multiple arthrogryposis, congenital neurogenic type 9986 neuronal migration disorders Aggregation(s) [in differential diagnosis]: - lethality in plurimalformations, not including chondrodystrophy or chromosomopathies - lethality, in chomosomal disorders Bibliography Winter-Harding syndrome J.Med.Genet.26,788-789,1989 Am.J.Med.Genet.113(1),23-28,2002 Page 2 of 2
