Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull.
Marfanoid phenotype with craniosynostosis (Shprintzen-Goldberg syndrome) is a rare disorder previously described in only 5 patients. We report on the sixth known patient with this condition. The findings which distinguish our patient from others reported previously are that she was ascertained prenatally as having a cloverleaf skull; this is the first female patient described with this condition. Postnatally, she presented with arachnodactyly, camptodactyly, and clover-leaf skull. Imaging studies of the brain documented microcephaly with malformed brain, hydrocephaly, and hypoplasia of the corpus callosum. She also had choanal atresia and stenosis, a clinical finding previously reported only once, in this disorder.
Saal
H M
HM
Division of Human Genetics, Children's Hospital Research Foundation, Children's Hospital Medical Center, Cincinatti, Ohio 45229, USA.
Bulas
D I
DI
Allen
J F
JF
Vezina
L G
LG
Walton
D
D
Rosenbaum
K N
KN
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000002:abnormalities*; D003398:Craniosynostoses / Q000473:pathology*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D005384:Finger Joint / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008382:Marfan Syndrome / Q000235:genetics / Q000473:pathology*; D010641:Phenotype; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities*; D016216:Ultrasonography, Prenatal