A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.
We report a 16-year-old boy with multiple craniofacial and skeletal dysmorphic features including brachycephaly, acrocephaly, hypertelorism, wide palpebral fissures, broad nose, anteverted nares, broad columella, long and smooth philtrum, thin upper lip, macrostomia, carp-like mouth, micrognathia, low-set and posteriorly angulated ears with small and abnormal pinnae, a low posterior hairline, a short neck, hypoplastic and widely-spaced nipples, multiple severe pterygia, an umbilical hernia, metatarsus varus, low implantation of the halluces, and delayed motor and language development. An MRI of the head showed bilateral frontal pachygyria but no sign of heterotopia. The unique features of our patient suggest that he represents a new syndrome.
Der Kaloustian
V M
VM
Montreal Children's Hospital and Department of Pediatrics, McGill University, Quebec, Canada. mddk@musica.mcgill.ca
Pelletier
M
M
Costa
T
T
Blackston
D R
DR
Oudjhane
K
K
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D001921:Brain / Q000002:abnormalities; D002658:Developmental Disabilities / Q000175:diagnosis*; D004827:Epilepsy / Q000175:diagnosis; D006214:Hallux / Q000002:abnormalities; D006801:Humans; D006869:Hydronephrosis / Q000175:diagnosis; D006972:Hypertelorism / Q000175:diagnosis*; D008265:Macrostomia / Q000175:diagnosis*; D008297:Male; D011625:Pterygium / Q000175:diagnosis