Related Experiment Videos
Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome
J Clayton-Smith1, B Kerr, H Brunner
1Regional Genetic Service, St Marys Hospital, Manchester, UK.
Insights
This study identifies a rare genetic condition in nine children featuring macrocephaly and congenital skin abnormalities. Affected infants often develop hydrocephalus, developmental delay, and physical asymmetry, requiring early diagnosis.
Area of Science:
- Pediatric Genetics
- Dermatology
- Neurology
Background:
- This report details a series of nine sporadic cases presenting with a consistent pattern of congenital anomalies.
- The study focuses on a distinct phenotype observed in infants with macrocephaly and specific vascular malformations.
Observation:
- The observed cohort exhibited macrocephaly, cutis marmorata telangiectatica congenita, and a characteristic capillary hemangioma of the philtrum and upper lip.
- All infants were large for gestational age at birth.
- Commonly observed features included syndactyly (fused digits) of the toes and/or fingers.
Findings:
- Seven of the nine surviving children developed hydrocephalus and exhibited developmental delay.
- Six children presented with body asymmetry, and three had internal arteriovenous malformations.
- The condition appears to be sporadic, with no familial inheritance pattern noted.
Implications:
- This recognizable syndrome should be considered in the differential diagnosis of neonates with overgrowth and macrocephaly.
- Early identification can facilitate timely management of associated complications like hydrocephalus and developmental delays.
- Further research into the underlying genetic cause and precise pathophysiology is warranted.
Abstract:
We describe nine children with a similar pattern of features including macrocephaly and cutis marmorata telangiectatica congenita. All were large at birth and had a distinctive capillary haemangioma involving the philtrum and upper lip. The seven who survived all developed hydrocephalus and had developmental delay. Six developed body asymmetry and three had internal arteriovenous malformations. Syndactyly of the second and third toes and/or the third and fourth fingers or toes was commonly seen. All of the cases were sporadic. This condition is easily recognizable and should be considered in the differential diagnosis of patients presenting with overgrowth and macrocephaly.