[Fryns syndrome. Description of a case].
We report on a female infant who presents a pattern of malformations including dysmorphic facies, Dandy-Walker anomaly, hypoplasia of the upper lobe of the right lung, associated with diaphragmatic elevation and slight digital anomalies. This whole clinical picture allows us to formulate the diagnosis of Fryns syndrome; this is one of the very few not lethal cases that are reported in literature.
Ficcadenti
A
A
Istituto di Clinica Pediatrica, l'Università di Ancona.
Lorenzini
L
L
Brocani
P
P
Celani
P
P
Kantar
A
A
Chiaramoni
L
L
Gabrielli
O
O
D000015:Abnormalities, Multiple; D003964:Diaphragm / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D013577:Syndrome
Sindrome di Fryns. Descrizione di un caso.