Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: Report of two adolescents and a child

We report on a previously undescribed syndrome characterized by generalized skeletal alterations and overgrowth in three unrelated individuals: a boy who died at age 16 years, a 16‐year‐old girl, and a 15‐month‐old boy. The skeletal changes included bony overgrowth of the skull base, spondylar dyspl...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2004-07, Vol.128A (2), p.204-208
Main Authors: Nishimura, Gen, Hasegawa, Tomonobu, Kinoshita, Eiichi, Tanaka, Yoko, Kurosawa, Kenzi, Yoshimoto, Masaaki
Format: Article
Language:English
Subjects:
Adolescent
Body Height
Bone Diseases, Developmental - diagnosis
Bone Diseases, Developmental - diagnostic imaging
Bone Diseases, Developmental - genetics
Estrogens - metabolism
Female
FGFR3
Glypicans
GPC3
Growth Hormone - metabolism
Heparan Sulfate Proteoglycans - genetics
Humans
IGF2
Infant, Newborn
Insulin-Like Growth Factor I - metabolism
Insulin-Like Growth Factor II - genetics
Male
Osteochondrodysplasias - diagnosis
Osteochondrodysplasias - diagnostic imaging
Osteochondrodysplasias - genetics
overgrowth
Protein-Tyrosine Kinases - genetics
Puberty, Delayed - genetics
Radiography
Receptor, Fibroblast Growth Factor, Type 3
Receptors, Fibroblast Growth Factor - genetics
spondylar dysplasia
Syndrome
Time Factors
undermodeling of the bone
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Summary:We report on a previously undescribed syndrome characterized by generalized skeletal alterations and overgrowth in three unrelated individuals: a boy who died at age 16 years, a 16‐year‐old girl, and a 15‐month‐old boy. The skeletal changes included bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Bone age was accelerated in early childhood. Overgrowth, which was independent of GH–IGF axis, was of prenatal onset in the two boys, but postnatal in the girl. In the two adolescents, growth rate did not decline with age, and high‐dose estrogen therapy failed to induce physeal fusion. Their adolescent height reached +4∼+7 SD of the mean. Delayed puberty in the girl and cryptorchidism and hypospadias in the younger boy raised the possibility that hypogonadism is a syndromic constituent. Molecular analysis of IGF2, GPC3, and FGFR3 in the older boy yielded no abnormalities. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30030