[Multiple pterygium syndrome: description of a new clinical case].
Multiple Pterygium Syndrome is a rare autosomal recessive disorder characterized by short stature, multiple pterygium, joint contractures, vertebral fusions and minor facial anomalies. Due to the extreme phenotypic variability of this syndrome many mild cases may be misdiagnosed or not recognized. The importance of an early diagnosis is to provide an adequate follow-up of these children in order to try to prevent many of the clinical problems they may encounter in their life-time.
Galasso
C
C
Clinica Pediatrica II, Università degli Studi di Roma, Italia.
Arci
F
F
Carnazza
S
S
Sanna
M L
ML
Serrao Arnone
D
D
Spagnoli
A
A
Boscherini
B
B
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002648:Child; D003286:Contracture / Q000175:diagnosis; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D013577:Syndrome
Sindrome dello pterigio multiplo: descrizione di un nuovo caso clinico.