Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism

AUTOR(ES)

Scholte, F A

RESUMO

A patient is described with severe mental retardation, a peculiar face with small palpebral fissures and premature balding, habitual patella luxations, small hands and feet, and hypogonadism, a combination which appears to represent a new syndrome.

Documentos Relacionados

• Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?
• Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth.
• Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.
• Inv dup (15) with mental retardation but few dysmorphic features.
• Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation.