[Fryns syndrome]. / Fryns-ov syndrom.

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.

[Wolf-Hirschhorn syndrome]. / Wolf-Hirschhornov sindrom.

Wolf-Hirschhorn syndrome (WHS) is a rare developmental disorder associated with hemizygous deletion of short arm of chromosome 4. Main phenotype characteristics of WHS are: intrauterine growth retardation, mental retardation, typical facial dysmorphism ("Greek warrior helmet"), microcephaly and midline fusion defects (cleft lip or palate, cardiac septal defects). Other abnormalities, like agenesis of corpus callosum, dysplastic kidneys, coloboma iris, skeletal abnormalities have been described occasionally. We described female newborn baby with 4p deletion, who had most of the phenotype characteristics of Wolf-Hirschhorn syndrome: intrauterine growth retardation, microcephaly, facial dysmorphism, congenital hypotonia and seizures in neonatal period. Other abnormalities included: hypoplastic cervical vertebra C4-C5, renal cyst and partial agenesis of corpus callosum. Patient had not cardiac septal defect. Due to a broad spectrum of possible morphologic abnormalities followed by mental retardation, prenatal diagnosis is very important. Postnatal recognition of the syndrome requires genetic counseling of parents and supportive multidisciplinary treatment.