Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities.

AUTOR(ES)

Woods, C G

RESUMO

This paper describes three children of a Pakistani first cousin marriage with a distinctive, non-progressive disorder characterised by variable phalangeal anomalies, microcephaly, pre- and postnatal growth retardation, poor vision, dystonic movements, a characteristic face, and severe mental retardation. This combination of features seems to be distinct and to represent a new autosomal recessive syndrome.

Documentos Relacionados

• Unknown syndrome in sibs: microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities.
• Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.
• Acquired alopecia, mental retardation, short stature, microcephaly, and optic atrophy.
• A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures.
• A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.