Documentation of anomalies not previously described in Fryns syndrome.
We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns syndrome.
Arnold
Sonya Rae
SR
Department of Pathology, University of South Florida, and Tampa General Hospital, 33601, USA.
Debich-Spicer D
Diane
D
Opitz
John M
JM
Gilbert-Barness
Enid
E
D000015:Abnormalities, Multiple / Q000473:pathology*; D002490:Central Nervous System / Q000002:abnormalities; D003937:Diagnosis, Differential; D003964:Diaphragm / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D009139:Musculoskeletal Abnormalities; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome