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Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy
Author(s) -
Shotelersuk Vorasuk,
Desudchit Tayard,
Suwanwela Nitaya
Publication year - 2002
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10067
Subject(s) - microcephaly , muscle contracture , medicine , atrophy , dysplasia , hypotonia , osteoporosis , anatomy , pathology , pediatrics
We describe two sibs with postnatal‐onset growth deficiency, microcephaly, cataract, prominent supraorbital ridge, large joint contractures, severe osteoporosis, cortical dysplasia, cerebellar atrophy, and mental retardation. The combination appears to constitute a previously undescribed syndrome inherited in an autosomal recessive pattern. © 2003 Wiley‐Liss, Inc.