title: A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.
abstract: We present two unrelated male infants with strikingly similar clinical features which have not previously been reported together. The most unusual feature was the presence of multiple small capillary malformations (port-wine stains) on the skin from birth. Both infants had intractable seizures, microcephaly with progressive cortical atrophy, severe developmental delay, dysmorphic facial features, and hypoplasia of the distal phalanges. To our knowledge, no other person with this unique constellation of features has been described.
authors.affiliation: Division of Developmental Pediatrics, Department of Pediatrics, Hospital for Sick Children, and Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada. mcarter@hollandbloorview.ca
authors.forename: Melissa T
authors.initials: MT
authors.lastname: Carter
authors.forename: Michael T
authors.initials: MT
authors.lastname: Geraghty
authors.forename: Laura
authors.initials: L
authors.lastname: De La Cruz
authors.forename: R Ross
authors.initials: RR
authors.lastname: Reichard
authors.forename: Luigi
authors.initials: L
authors.lastname: Boccuto
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: Carol L
authors.initials: CL
authors.lastname: Clericuzio
mesh_terms: D000015:Abnormalities, Multiple; D002196:Capillaries / Q000002:abnormalities*; D002675:Child, Preschool; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D046228:Microarray Analysis; D008831:Microcephaly / Q000473:pathology*; D019339:Port-Wine Stain / Q000473:pathology*; D012640:Seizures / Q000473:pathology*; D013577:Syndrome