[Macrocephaly-capillary malformation. A neonatal case]

Arch Pediatr. 2012 Sep;19(9):917-20. doi: 10.1016/j.arcped.2012.06.017. Epub 2012 Aug 9.
[Article in French]


Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly syndrome first described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita, and several other abnormalities. Since 2007, this syndrome has been renamed macrocephaly-capillary malformation.

Case report: The pregnancy was marked by polyhydramnios associated with fetal macrosomia and macrocephaly. Clinical examination of the newborn confirmed overgrowth, macrocephaly, and found skin abnormalities with diffuse marbled skin, filtrum and upper lip vascular anomaly, and several superficial capillary malformations on the chest and abdomen, partial bilateral syndactyly between the 2nd and 3rd toes, and right hemi-hypertrophy of the body. Brain magnetic resonance imaging showed moderate right hemimegalencephaly. Radiological examination of the skeleton showed asymmetry of the limbs. At 8 months, the medical follow-up confirmed the diagnosis and its neurosurgical treatment of hydrocephalus secondary to an Arnold Chiari malformation.

Discussion: The patient reported herein presented macrocephaly-capillary malformation syndrome characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly, and body asymmetry. We describe the major components of this multiple malformative syndrome that is rarely reported in the pediatric literature, especially in newborns. This syndrome should be detected early because medical multidisciplinary follow-up is necessary to prevent different complications (neurological, orthopedic, or oncologic).

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Female
  • Humans
  • Infant, Newborn
  • Megalencephaly / diagnosis*
  • Skin Diseases, Vascular / diagnosis*
  • Telangiectasis / congenital*
  • Telangiectasis / diagnosis

Supplementary concepts

  • Megalencephaly cutis marmorata telangiectatica congenita