Holoprosencephaly

Gropman, Andrea; Muenke, Maximilian

doi:10.1002/9780470893159.ch30

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2015

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(3 citation statements)

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“…Since some cases of HPE are inherited in an autosomal dominant fashion, identifying other affected family members has implications for genetic testing and recurrence risks. 14,15 …”

Section: Introductionmentioning

confidence: 99%

“…16 Treatment is multidisciplinary and may include pituitary hormone replacement, antiepileptic medications and surgical repair of midline cleft lip with or without cleft palate in those who are more mildly affected. 15 …”

Section: Introductionmentioning

confidence: 99%

“…The constellation of anomalies may indicate an underlying genetic syndrome, which may require further evaluation (Tables 8 and 9). 7,15,18,23–27 …”

Section: Introductionmentioning

confidence: 99%

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Evaluation and Diagnosis of the Dysmorphic Infant

Jones

Adam

2015

Clinics in Perinatology

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SYNOPSIS Neonatologists often have the unique opportunity to be the first to identify abnormalities in the neonate. In this review, multiple anomalies and physical features are discussed along with the potential associated genetic syndromes. The anomalies and physical features that are discussed include birth parameters, aplasia cutis congenita, holoprosencephaly, asymmetric crying facies, preauricular ear tags and pits, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, congenital heart defects, ventral wall defects, and polydactyly.

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“…Since some cases of HPE are inherited in an autosomal dominant fashion, identifying other affected family members has implications for genetic testing and recurrence risks. 14,15 …”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%