Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0728731 (
prematurity
)
7,134
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A boy aged 2 years, born prematurely to Gipsy parents, presented with hypopigmentation severe encephalopathy with athetoid movements, bilateral ocular anomalies including cloudy corneas, iris atrophy and cataracts, as well as dental defects. Ultrastructural examination of the skin disclosed scare melanosomes. Although the neurologic and ocular anomalies might have been accounted for by his extreme
prematurity
, their association with hypomelanogenesis and dental defects support, in this patient the diagnosis of the
oculocerebral hypopigmentation syndrome
(
Cross syndrome
).
...
PMID:Oculocerebral hypopigmentation syndrome (Cross syndrome) in a Gipsy child. 259 92
