Article
Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and müllerian regression: further delineation of a new syndrome?
Clinical dysmorphology - 1 Jan 1995
Verloes A, Narcy F, Fallet-Bianco C
Abstract excerpt
A 24-week-old fetus is described here with holoprosencephaly sequence (arhinencephaly and agenesis of the corpus callosum) associated with brain and meningeal dysplasia, microphthalmia with an ectopic pigmentary layer, hypothalamic hamartoblastoma, preaxial asymmetric limb reduction, lung hypoplasia, gastric hypoplasia, Müllerian regression, intestinal malrotation, asplenia, and normal chromosomes. The...
Topics
- Abnormalities, Multiple
- Female
- Fetus
- Hamartoma
- Holoprosencephaly
- Humans
- Hypothalamic Diseases
- Lung
- Microphthalmos
- Mullerian Ducts
- Phenotype