Holoprosencephaly Clinical Presentation

Updated: Sep 07, 2017
  • Author: Jay Desai, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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A diagnosis of holoprosencephaly may be made prenatally or it may be obvious at birth because of the craniofacial abnormalities.

The severity of craniofacial malformations and holoprosencephaly correspond in most cases, but not all. [81, 82] The categorization of the type of holoprosencephaly requires neuroimaging.

Seizures are common. They are usually focal or focal with secondary generalization. Infantile spasms may occur. [83, 84]

Patients often have feeding difficulties, gastroesophageal reflux, and malnutrition. [85] Pituitary dysfunction is common. [86] Diabetes insipidus is the most prevalent hormonal abnormality.

Other problems include temperature dysregulation, disturbed sleep-wake cycle, recurrent respiratory tract infections, chronic lung disease, and constipation. [87]

Death is usually due to brainstem dysfunction, with infections and dehydration being other important factors. [88]

A prenatal history should document possible environmental causes. A family history of miscarriages, terminations of pregnancy, neonatal, or infant deaths and craniofacial abnormalities is necessary in all cases.


Physical Examination

A detailed examination is necessary to rule out associated syndromes. Developmental delay is the rule, but the severity may vary according to the severity of brain malformations. Motoric abnormalities include spasticity, hypotonia, choreoathetosis and dystonia. [89] Patients usually have microcephaly. [6] In the absence of microcephaly, hydrocephalus should be considered a possibility. [90]