Spectrum of holoprosencephaly.
OBJECTIVE
To conduct a clinical study of holoprosencephaly (HPE).


METHODS
Thirteen cases of HPE were studied regarding their clinical features, family history, and prenatal and imaging studies. Chromosomal analysis was done whenever fresh sample was available.


RESULTS
Six cases were antenatally detected by ultrasound; four cases were stillborn. Three cases were identified by neuroimaging done a part of evaluation of developmental delay or cleft lip. Eleven of them had facial anomalies characteristics of HPE. Two of these had subtle facial features and microcephaly. Karyotype was abnormal in 2 of 7 cases studied.


CONCLUSIONS
Most of the cases of HPE present antenatally or at birth. Milder forms like lobar and semilobar can present as developmental delay during infancy. Facial anomalies are usually associated with HPE. Chromosomal study of the case and clinical examination of the parents is essential for providing information regarding risk of recurrence to the family.
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Seema
S
Thakur
Renu
R
Singh
M
M
Pradhan
Shubha R
SR
Phadke
D000015:Abnormalities, Multiple; D005260:Female; D016142:Holoprosencephaly / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies