Prenatal diagnosis of kyphomelic dysplasia.
Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by disproportionate dwarfism with shortening and bowing of the limbs, narrow chest, 11 ribs and metaphyseal flaring. Mental development is generally normal. We report the in utero ultrasound appearances and post-mortem radiographic findings of a 22-week-old male fetus suggestive of KD. A review of 19 previously reported patients with KD is also presented.
Guala
A
A
Ambulatori di Genetica, Borgosesia e Vercelli, ASL 11, Italy.
Biroli
E
E
Bassini
P
P
Botta
G
G
Licata
D
D
Di Cara
G
G
Franceschini
D
D
Franceschini
P
P
D000328:Adult; D000649:Amniocentesis; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging*; D004392:Dwarfism / Q000000981:diagnostic imaging*; D005260:Female; D005269:Femur / Q000002:abnormalities; D005865:Gestational Age; D006801:Humans; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal