A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype?
We present a family with four children in which three, a girl and two boys, present a similar MR/MCA syndrome with slight to moderate mental retardation, short stature, peculiar facies with palpebral ptosis, pectus excavatum and pulmonary stenosis. As both parents are mentally and physically normal, autosomal recessive inheritance of this Noonan-like phenotype is most likely. The findings in the present family confirm that the Noonan phenotype may be caused by different etiologies with different types of genetic transmission.
Maximilian
C
C
Department of Clinical Genetics, Institute of Endocrinology, C.I. Parhon, Bucarest, Roumania.
Ioan
D M
DM
Fryns
J P
JP
D000293:Adolescent; D001763:Blepharoptosis / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis / Q000235:genetics; D012886:Skull / Q000002:abnormalities