Nguyen syndrome

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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

Nguyen syndrome is a rare disorder characterized by low blood cholesterol, mental retardation and various congenital anomalies.

Diagnosis

Symptoms

• Obesity
• Severe growth retardation

Physical Examination

HEENT

• Small head
• Facial anomalies
• Epicanthal folds
• Short nose
• Low nose bridge
• Anteverted nostrils
• High arched palate

Neurological

• Underdeveloped frontal brain lobes
• Severe cognitive impairment
• Behavioral problems
• Mental retardation

Extremities

• Poor infant muscle tone
• Camptodactyly of 4th and 5th fingers
• Partial webbing of 2nd and 3rd toes

Other

• Undescended testes
• Underdeveloped infant scrotum

Laboratory Findings

• Low blood cholesterol
• Low blood betalipoprotein level