Recurrence of a severe multiple congenital anomaly syndrome characterized by micrognathia, microtia, cleft palate, and short neck in two siblings.
Natacci
Federica
F
Clinical Genetic Unit, Department of Obstetrics and Pediatrics Medical Genetic Laboratory Pathology Unit Obstetric and Gynecology Clinic, University of Milan, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.
Bianchi
Vera
V
Guerneri
Silvana
S
Rizzuti
Tommaso
T
Boito
Simona
S
Gentilin
Barbara
B
Bedeschi
Maria F
MF
Lalatta
Faustina
F
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D002972:Cleft Palate / Q000473:pathology*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D009333:Neck / Q000002:abnormalities*; D012008:Recurrence; D013577:Syndrome; D014071:Tooth Abnormalities / Q000473:pathology*