Diastrophic dwarfism

A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

Encephalopathy

Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.


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PMID (PMCID)
304707
 MALE Infant, Newborn
[Distal trisomy 15q].
Turleau C, de Grouchy J, Chavin-Colin F, Roubin M.
Ann Genet. 1977;20(3):214-6.
A patient with distal 15q trisomy resulting from malsegregation of a maternal t(13;15)(q33;q21.2) showed the following symptoms: micro-dolichocephaly, palpebral fissures slightly oriented downwards and outwards, a large nose, pronounced micrognathia, prominent authelices, ligamental abnormalities, osseous malformations evocative of diastrophic dwarfism, severe congenital heart defect, and profound encephalopathy.