Problem of Subehtara

Present Complaints:

FTT, H/O IUGR (Birth Weight 1.5 kg), multiple cong anomalies, cleft palate (Repaired, September,2010), anovestibular fistula (corrected), Brachycephaly, upward slant of eyes with hypertelorism.

H/O consanguinity 1st degree.

Consanguinity in the parents & in the grand parents.

O/E:

Dolicocephaly, Frontal area of both sides soft except midline in fore head, Prominent eyes, Beaicked nose, Hypertelorism, Prominent scalp veins, Low set ear, Cleft Palate, Chest moist, Retarded growth.

Investigation:

Chromosomal analysis normal Karyotype 46 xx, ECHO normal, TORCH infection, Maternal CMV, Toxoplasma, HSV IgG type I and II positive, Babys Toxoplasma IgG-positive, Cytomegalo IgG, HSV IgG positive.

USG Brain Hydrocephalus, Chest X ray Spina Bifida, upper and dorsal vertebrae.


Development:

Single word, can walk, and can smile and can understand.