" /> Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia - CISMeF





Preferred Label : Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Rozendaal et al. (2003) reported 2 brothers born to consanguineous parents who presented with hypotonia and hypoglycemia in the neonatal period and later developed obesity and developmental delay. They had brachydactyly and similar facial features, including a prominent forehead, low nasal bridge, midface hypoplasia, full lips, a small mouth, and small, low-set ears with overfolded helices. Their sister had mild developmental delay and obesity. No additional anomalies were found, and metabolic investigations, including peroxisomal functions, were normal. The authors suggested that the patients had a previously unreported condition with an autosomal recessive or X-linked mode of inheritance. *FIELD* RF 1. Rozendaal, L.; Del Canho, H.; Waterham, H. R.; Hennekam, R. C. M.: Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers. Clin. Dysmorph. 12: 9-13, 2003. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 608624;

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04/05/2025


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