Ontology highlight
ABSTRACT:
SUBMITTER: Hamel BC
PROVIDER: S-EPMC1050673 | biostudies-other | 1996 Jul
REPOSITORIES: biostudies-other
Hamel B C BC Raams A A Schuitema-Dijkstra A R AR Simons P P van der Burgt I I Jaspers N G NG Kleijer W J WJ
Journal of medical genetics 19960701 7
We report on a male patient born to healthy, first cousin, Moroccan parents. During the pregnancy growth retardation was observed. Birth weight, length, and OFC were all well below the 3rd centile. Facial anomalies, microphthalmia, cleft palate, small penis, and flexion contractures of large joints were noted. Cerebral MRI showed dysmyelination. The clinical course was characterised by feeding difficulties, growth failure, lack of development, photosensitivity, and death at 7 months. The main di ...[more]