Thakur Seema, Singh Renu, Pradhan M, Phadke Shubha R
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Indian J Pediatr. 2004 Jul;71(7):593-7. doi: 10.1007/BF02724118.
To conduct a clinical study of holoprosencephaly (HPE).
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.
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.
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.
开展全前脑畸形（HPE）的临床研究。
对13例全前脑畸形患者的临床特征、家族史以及产前和影像学检查进行研究。只要有新鲜样本，就进行染色体分析。
6例通过超声在产前检测出；4例为死产。3例是在对发育迟缓或唇裂进行评估的一部分神经影像学检查中发现的。其中11例具有全前脑畸形的面部异常特征。其中2例面部特征细微且有小头畸形。在7例研究病例中，2例核型异常。
大多数全前脑畸形病例在产前或出生时出现。较轻的类型如叶型和半叶型在婴儿期可能表现为发育迟缓。面部异常通常与全前脑畸形有关。对病例进行染色体研究以及对父母进行临床检查对于向家庭提供复发风险信息至关重要。
