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X‐linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy
Author(s) -
Gangadaran Prabakaran,
Chaudhry Chakshu,
Panigrahi Inusha,
Kumari Anu,
Kaur Anupriya
Publication year - 2021
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.62134
Subject(s) - scoliosis , medicine , dysplasia , compromise , presentation (obstetrics) , spinal cord , genetic disorder , pediatrics , surgery , pathology , psychiatry , social science , disease , sociology
Frontometaphyseal dysplasia (FMD) is a rare genetic disorder with morphological abnormalities of the skeletal and extra skeletal tissues. It belongs to the group of otopalatodigital spectrum disorders. Here we report a 12‐year‐old boy from India with features of frontometaphyseal dysplasia who had severe scoliosis with neurological complications due to spinal cord compromise. Clinical examination of his mother also revealed mild features of FMD. The manuscript highlights the clinical presentation of the disorder and discusses the clinical heterogeneity of the otopalatodigital spectrum disorders.