Holoprosencephaly: a report of 2 cases with different presentations
Egyptian Journal of Medical Human Genetics [The]. 2008; 9 (2): 249-256
in En
| IMEMR
| ID: emr-135306
Responsible library:
EMRO
ABSTRACT
Holoprosencephaly is a common developmental defect of the forebrain and midface in humans. Clinical expression is variable, extending in unbroken sequence from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial holoprosencephaly. Here, we describe two unrelated affected cases, with alobar, and semilobar holoprosencephaly with different presentations and clarified the associated phenotypic changes in form of microcephaly, hypotelorism, flat nose, a single nostril, a midline cleft lip and palate in the first case and solitary median maxillary central incisor, associated with prominent midline palatal ridge in the second case
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Index:
IMEMR
Main subject:
Brain
/
Magnetic Resonance Imaging
/
Cleft Palate
/
Microcephaly
Type of study:
Case_reports
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Egypt. J. Med. Hum. Genet.
Year:
2008