Patterson-Lowry rhizomelic dysplasia: report of two new patients.
We report two new patients with the Patterson-Lowry rhizomelic dysplasia characterized by very short humeri, coxa vara with proximal femoral epiphyseal involvement, short metacarpals, metatarsals and phalanges. The expression of clinical and radiological characteristics is significantly variable, but the unique proximal metaepiphyseal appearance of humeri makes the syndrome easily identifiable. All the reported patients are sporadic. The genetics of the syndrome remain unclear for the moment.
Franceschini
Piergiorgio
P
Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università degli Studi, Torino, Italy.
Licata
D
D
Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università degli Studi, Torino, Italy.
Guala
A
A
Ambulatorio di Genetica Clinica, Ospedale "SS. Pietro e Paolo," Borgosesia, Italy.
Ingrosso
G
G
Divisione di Ortopedia e Traumatologia, Ospedale Infantile "Regina Margherita," Torino, Italy.
Di Cara
G
G
Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università degli Studi, Torino, Italy.
Franceschini
D
D
I Clinica Ortopedica, Università degli Studi, Torino, Italy.
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D005260:Female; D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D006811:Humerus / Q000002:abnormalities / Q000000981:diagnostic imaging; D008297:Male; D010388:Pelvis / Q000002:abnormalities / Q000000981:diagnostic imaging; D011859:Radiography; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities / Q000000981:diagnostic imaging