[Fryns syndrome].
Fryns syndrome is an extremely rare developmental disorder associated with deletion of long arm of chromosome 16. Characteristics of the Fyns syndrome are: craniofacial dysmorfism, diaphragmatic defects with lung hypoplasia, distal digital hypoplasia, brain and urogenital abnormalities and other developmental disturbances. After the first description in two stillborn sisters by Fryns (1971), new reports appeared with descriptions included disorders which have not described previously. We described a case of female live born with deletion of long arm of chromosome 16. Our patient had a typical craniofacial dysmorfism, brain abnormalities (Dandy Walker malformation), cardiac defects (artial septal defect and persistent ductus arteriosus), renal hypoplasia, gastrointestinal problems, hypotonia and feeding difficulties. Our patient had no diaphragmatic hernia and he survived neonatal period with severe neurological impairment.
Heljić
Suada
S
Pedijatrijska klinika, Klinicki centar Univerziteta Sarajevo. heljicsuada@hotmail.com
Terzić
Sabina
S
Dzinović
Amra
A
Mackić
Mirela
M
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome