The microcephaly-capillary malformation syndrome in two brothers with novel clinical features.
PMID 25266620 | DOI 10.1016/j.pediatrneurol.2014.07.006 · Pediatric neurology · 2014 · View on PubMed ↗
BACKGROUND: Microcephaly-capillary malformation syndrome is a newly described neurocutaneous entity that is characterized by congenital and progressive microcephaly, intractable epilepsy, profound developmental delay, multiple small capillary malformations on the skin, and poor somatic growth. Recently, mutations in the STAMBP gene have been identified as causative in the pathogenesis of this syndrome. PATIENTS: We describe two brothers (ages 7 and 12 years) from consanguineous parents of Saudi ancestry. Along with the established main clinical features of this syndrome, these boys exhibited certain novel and distinctive phenotypic features (congenital hypothyroidism and autistic-like behavior with intermittent repetitive hand-flapping movements). Genetic studies revealed the presence of homozygous pathogenic STAMPB mutation. CONCLUSION: This report presents the longest follow-up of patients with microcephaly-capillary syndrome so far reported and emphasize the syndrome's phenotype variability.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | STAMBP | “Recently, mutations in the STAMBP gene have been identified as causative in the pathogenesis of this syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “BACKGROUND: Microcephaly-capillary malformation syndrome is a newly described neurocutaneous entity that is characterized by congenital and progressive microcephaly, intractable epilepsy, profound developmental delay, multiple small capillary malformations on the skin, and poor somatic growth.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “BACKGROUND: Microcephaly-capillary malformation syndrome is a newly described neurocutaneous entity that is characterized by congenital and progressive microcephaly, intractable epilepsy, profound developmental delay, multiple small capillary malformations on the skin, and poor somatic growth.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “PATIENTS: We describe two brothers (ages 7 and 12 years) from consanguineous parents of Saudi ancestry.” | 0.95 | saudi_context_rules_v1 |