Mental retardation-blepharophimosis-obesity-web neck

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S

Overview

A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck.

Diagnosis

Physical Examination

General

• Obesity

HEENT

• Blepharophimosis
• Webbed neck
• Low hair line at nape
• Small teeth
• Small jaw
• Glaucoma
• Short head
• Downturned mouth
• Low set ears
• Absent upper lip groove
• Nystagmus
• Short neck
• Short nose
• Sparse scalp hair
• Upslanted space between eyelids
• Posterior angulation of ears
• Abnormal ears
• Epicanthic folds
• Wide set eyes
• Sparse eyebrows
• Absent eyebrows
• Anteverted nostrils

Chest

• Small nipples
• Absent nipples
• Narrow rib cage

Neurological

• Mental retardation

Extremities

• Short fingers

• Curved fifth finger
• Speech defect

Other

• Abnormal shoulder blades