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Achondroplasia

A form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Short metacarpal

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.

Total: 1

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PMID (PMCID)
11426459	MIXED_SAMPLE	Infant, Newborn
	Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.
	Schweitzer DN, Graham JM Jr, Lachman RS, Jabs EW, Okajima K, Przylepa KA, Shanske A, Chen K, Neidich JA, Wilcox WR. Am J Med Genet. 2001;98(1):75-91.
	We identified subtle radiographic findings of achondroplasia in all six cases including narrow sacrosciatic notches, short vertebral bodies, lack of the normal increase in interpediculate distance from the upper lumbar vertebrae caudally, and broad, short metacarpals and phalanges.