title: A provisionally unique syndrome of macrosomia, bone overgrowth, macrocephaly, and tall stature.
abstract: We report a young man with intrauterine macrosomia, macrocephaly, and bony abnormalities. Excessive growth continued throughout infancy and childhood. Bone age was advanced. He developed contractures of the large joints and was confined to a wheelchair. Extensive laboratory studies, repeated on multiple occasions were all normal. Intellectually, he was normal. His near final height was 234 cm. The constellation of findings in this patient is at variance with previously described syndromes of tall stature. We postulate that excessive size and bone overgrowth in this young man is caused by a receptor/post-receptor abnormality involving a growth on/off mechanism at the cellular level.
authors.affiliation: Division of Pediatric Endocrinology, Tufts University School of Medicine, Floating Hospital for Children at Tufts-New England Medical Center, Boston, Massachusetts 02111, USA. asadeghi@tufts-nemc.org
authors.forename: Ab
authors.initials: A
authors.lastname: Sadeghi-Nejad
authors.forename: Lawrence I
authors.initials: LI
authors.lastname: Karlin
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities; D005320:Fetal Macrosomia / Q000473:pathology*; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome