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Article

Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.

American journal of medical genetics. Part A - 1 Aug 2012

Abdel-Salam Ghada M H, Abdel-Hamid Mohamed S, Saleem Sahar N, Ahmed Mahmoud K H, Issa Mahmoud, Effat Laila K, Kayed Hisham F, Zaki Maha S, Gaber Khaled R

Abstract excerpt

We describe two sibs with a lethal form of profound congenital microcephaly, intrauterine and postnatal growth retardation, subtle skeletal changes, and poorly developed brain. The sibs had striking absent cranial vault with sloping of the forehead, large beaked nose, relatively large ears, and mandibular micro-retrognathia. Brain magnetic resonance imaging (MRI) revealed extremely simplified gyral pattern, large...

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Identifiers

PMID: 22786707
DOI: 10.1002/ajmg.a.35480

Genes

ASPM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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