Cerebral arteriovenous malformation in Noonan's syndrome
. Postgrad Med J 1992;68:37-40.
She displayed features of Noonan's syndrome
(short stature, small face, protuberant abdomen with no mass, and developmental delay), for which her mother was also diagnosed.
Emma Ward, 15, who suffers from Noonan's Syndrome
and is beset by health problems, had an operation to straighten her spine in the summer.
Finally, a newly-arrived doctor at Stafford hospital carried out tests and said she thought Greg had Noonan's Syndrome, a genetic condition that affects mental and physical development.
'I looked up Noonan's Syndrome in reference books, but didn't know what more than half the words meant.
In a statement read to the court, mum Leigh said: "At birth she was diagnosed with Noonan's Syndrome
They are known to be associated with Turner's syndrome, Noonan's syndrome
, Trisomies, Cardiac anomalies, Fetal hydrops, Fetal alcohol syndrome, and Familial pterygium colli.
Tests confirmed that Kelly had Noonan's Syndrome
, an extremely rare condition affecting just one baby in tens of thousands.
Potential causes include Klinefelter's syndrome and its variants; anorchia; cryptorchidism; XY gonadal dysgenesis; Noonan's syndrome
; Turner's syndrome and its variants; and XX gonadal dysgenesis.
The twins have a rare condition called Noonan's Syndrome
, which causes severe health problems including blindness and heart and lung defects.
Mutational analysis of PTPN 11 gene showed a heterozygous pathogenic missense mutation in exon 13 was detected [c.1510A > G (p.M504V)], confirming the diagnosis of Noonan's syndrome
in this child.