Nbb term sga with dysmorphism , ambiguous genitals as in pics. gr 2 systolic murmur upper left eternal border. No cyanosis. spo2 90 %,no resp. distress. poor suck. diagnosis

(Edited)

3 Likes

LikeAnswersShare
Coarse facial features Microtia Ambiguous genital Genu varum ?DDH Altogether DD Pseudohermaphroditism Congenital adrenal hyperplasia Duobitz syndrome Investigations Ultrasound abdomen for genital If both testicles felt male hermaphrodite If both ovaries feel female hermaphrodite Both feel true hermaphrodite This case seems of pseudo hermaphrodite Urinary blood levels of 17 HYDROXY ketosteroids Androgen INSENSITIVITY by alpha 1 reductase 3beta HYDROXY steroids urine blood Echocardiography Karyotyping Bone assay for skeletal dysplasia and xray hip for DDH
Dysmorphic Facies. Redundant skin nape of neck. Depressed bridge Nose. Widely placed Eyes. Low placed Ears. Ambiguous generalist. THEASE FEATURES CONSISTENT WITH CAH. Work up with : Karyotyping. Salt loosing type of CAH is urgent to save the Baby from Shock & Morbity. 17-OHP. USG ABDOMEN. GENETIC COUNSELING FOR BOTH PARENTS.
I am not impressed with genital ambiguity in the pic provided, there is lack of clarity. I shall request the colleague to give the details of ambiguity. There is normal physiological bowing of legs. There is low hairline and abnormal ears. The murmur could be bicuspid aortic valve with stenosis. It could be Turner syndrome.
@Dr. Manoj Sharma Very unusual to find ambiguous genital with cardiac defects Good case It could be female hermaphrodite or pseudo hermaphrodite as I told earlier Face are very typical in Noonan and never present c ambiguous genital Doesn't fit in any syndrome Take part in investigations of two separate entity cardiac and ambiguous genital Karyotyping and CAH ,
I strongly feel it is undescended testes in a male child and most of the features favour a Noonan syndrome. For disorders of sex development the term pseudo hermaphrodite is not used these days it is defined as xx xy or chromosomal. I dhall reiterate that a karyotype and abdominal usg are thr two lead investigations in this baby
Sir as investigation done and reports suggest testicles not palpable anywhere ? Why cryptorchidism sir
0

View 2 other replies

Fused labioscrotal folds, ?undervirilized penis with urethral opening with no palpable testes . Also high arched palate. Loose nuchal skin folds. Echo done TOF with Pulm atresia. Also edema of hands and feet. ?Noonan turner?Smith lemli opitz
Noonan can happen in female but extremely uncommon. Should have Pectus carinatum and peripheral pulmonary stenosis They also are likely to have cardiomyopathy
0
In any case karyotyping and genetic studies for noonan are warranted An USG to delineate internal sex organs will be extremely helpful
According to book features resembles with Noonan syndrome? Except pseudo hermaphrodite?
Turner syndrome Congenital adrenal.hyperplasia

Cases that would interest you