History of white patchy hair with deafness blue eyes decrease in intellectual function Any differentials ??

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Congrats Dr ParthaSaradthi Sir. This is type 1 wardenburg syndrome, a genodermatoses. Premature gray hair , blue iris are suggestive. Wide nasal root and widely spacd eyes are less appreciable. Bilateral sensineural deafness and leycoderma else where will corroborate the diagnose . Differential diagnosis includes Waardenburg syndrome type 2, 3 and 4, piebaldism, Tietz syndrome, oculocutaneous albinism, Vogt-Koyanagi-Harada disease and other forms of congenital non-progressive sensorineu deafness.

I entirely agree with Dr Sujan Singh Sir regarding this being WS 2 than WS1. for curofian collegues clarification here is the extract. WS2 is one of the most common types of Waardenburg syndrome. Clinical description Clinical manifestations for WS2 resemble those of Waardenburg syndrome type 1. Sensorineural hearing loss (77%) and heterochromia iridum (47%) are the two most important clinical features for WS. In addition, individuals with WS2 lack dystopia canthorum and are usually more frequently affected by hearing loss and heterochromia iridum. In some cases (mutation in SOX10 gene), patients may present associated signs of Kallmann syndrome (anosmia, hypogonadism; see this term) and/or neurological defects (neurological Waardenburg syndrome).. The finest distinguishing points are abscent widely spaced eyes and variable deafness ( which is not studied in this case). I thank for the correction made. Regards sir.@ Dr Surjan Singh Sir.

Waardenburg syndrome

Tanq sir
1

Type 2 Waardenburg syndrome as eyes are not spaced and hearing loss is much more in type two than type 1

Wardenberg syndrome. I agree with Dr. Partha Sarathi Sahana

Tanq sir
0

Wardenberg syndrome. I also do agree c Dr Partha Sarathi Sahana Sir

Waardenburg syndrome

This is Waardenburg syndrome

Wardenburg syndrome

BLUE SCLERA MENTAL RETARDATION V K H DESEASE

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