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

A rare disorder characterized by low blood cholesterol, mental retardation and various congenital anomalies

  • Low blood cholesterol
  • Low blood betalipoprotein level
  • Poor infant muscle tone
  • Obesity
  • Severe growth retardation
  • Small head
  • Underdeveloped frontal brain lobes
  • Severe cognitive impairment
  • Behavioral problems
  • Facial anomalies
  • Epicanthal folds
  • Short nose
  • Low nose bridge
  • Anteverted nostrils
  • High arched palate
  • Camptodactyly of 4th and 5th fingers
  • Partial webbing of 2nd and 3rd toes
  • Undescended testes
  • Underdeveloped infant scrotum
  • Mental retardation

References

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