sensory neural deafness, ape hand, low set ears, prognathism, mentally retarded. what will be the diagnosis



this seems ad Pfeiffer syndrome...less likely to be aperts as well..but either ways..manamgement wont bera and audiogram..assess for hearing aid sos cochlear implant...plan occupational and behavorial therapy..and assess the progress...karyotyping for chromosome 10q will allow you to differentiate between apert and pfiffers

Bohring opitz syndrome

Kindly also get x-rays if both forearms and hand, chest and pelvis. The treatment Is supportive. please document everything and keep her in follow up. A developmental paediatrician and medical genetics Doctor can be included in your team for her treatment

Pfeiffer syndrome will have open sutures and head circumference will be more. they also have hydrocephalus on MIR n need vp shunt. they also need corrective cranial vault repair. one thing proptosis is absent in this child which generally present in pfeiffer. treatment is supportive n above mentioned.

Pfeiffer syndrome. congenital defects. supportive treatment and surgical intervention may correct few sign and symptoms.

Pfeiffer syndrome Only behavior therapy and symptomatic management is possible steps .

down 'syndrome

pfeiffer syndrome

Apart syndrome

Definitely not Downs or Apert or Bohring opitz.

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