OBJECTIVE: To conduct a clinical study of holoprosencephaly (HPE). METHOD: 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. CONCLUSION: 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.
OBJECTIVE: To conduct a clinical study of holoprosencephaly (HPE). METHOD: 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. CONCLUSION: 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.
Authors: Can Schell-Apacik; Mariel Rivero; Jessica L Knepper; Erich Roessler; Maximilian Muenke; Jeffrey E Ming Journal: Hum Genet Date: 2003-04-23 Impact factor: 4.132
Authors: Jeffrey E Ming; Michelle E Kaupas; Erich Roessler; Han G Brunner; Mahin Golabi; Mustafa Tekin; Robert F Stratton; Eva Sujansky; Sherri J Bale; Maximilian Muenke Journal: Hum Genet Date: 2002-03-02 Impact factor: 4.132
Authors: Hashim Javad; Saif Al-Yarubi; Alexander P Chacko; Dilip Sankhla; Amna Al-Futasi; Anas A Abdelmogheth; Mohamed El-Naggari Journal: Sultan Qaboos Univ Med J Date: 2013-06-25