Abdullah Arshad, Imran Asghar.
Noonan syndrome.
Pak J Pathol Jan ;13(2):41-3.

An eleven-year-old girl was brought by her parents for evaluation of her short stature. Her height and weight were 115 cm and 16 kg respectively. On examination, there was facial dysmorphism, normal web neck, hypertelorism, palpebral slant, prominent epicanthic folds, pectus carinatum and cubitus valgus. First and second heart sounds were audible with absence of any additional heart sound or murmur. There was no evidence of any clindodactyly, hernias, hearing loss, mental retardation, axillary or pubic hair or breast development. Fundus examination and the slit lamp examination were unremarkable. Menarche had not set in. She had a normal female karyotype with no numerical or structural chromosomal abnormality. Electrocardiogram showed inverted T-waves in leads V1, V2 and V3. Ultrasonography revealed an absent right kidney, normal left kidney, an anteverted uterus, a unilocular right adenexal cyst measuring 5x4.5 cm and a 1.7x2.0 cm left ovary which contained numerous follicles. No ascities or hepatosplenomegaly was detected. Laboratory investigations revealed growth hormone (fasting) 0.2ug/l (n=0.7-6ug/l). Thyroid function tests were within normal range. The basal plasma LH (0.8mlU/ml) was normal(n=0.4-11.7mlU/ml) and FSH (25mlU/ml) high (n=1.5-12.8mIU/ml), with an elevated response of both LH and FSH to LH-RH. Fasting growth hormone estimation was again performed after one month. No change in the level was noted. Her early developmental milestones were delayed as compared with other normal girls. Length at birth was normal. Further inquiry into the patient`s family history pointed out that her ten-year-old sister also had similar clinical features. She weighed 14 kg and was 108 cm tall. The patient was later on lost to follow up.

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com