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Clinical Pediatrics
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Difficulties in the Neonatal Diagnosis of Menkes' Kinky Hair Syndrome—Trichopoliodystrophy

Tania R. Gunn

St. Helen's Hospital, Linwood Ave., Auckland, New Zealand

Scott Macfarlane

L.I. Phillips

The recognition of Menkes' kinky hair syndrome, trichopoliodystrophy, may present problems in the early neonatal period. The serum copper, and ceruloplasmin levels are within the range of normal infants in the first week of life; they are higher than normal in the cord blood of affected infants and fall gradually. Pili torti may only develop later, as the primary fetal hair is normal. The baby may appear bald, or both normal and abnormal hair may be found in different areas of the skull. The roentgenographic signs of wormian bones in the skull, metaphyseal spurring of the long bones, and diverticuli of the bladder develop progressively and may not be seen until after 6 weeks of age. However, diagnosis is possible in the neonatal period, if male infants with unexplained hypothermia, hypotonia, septicemia, or seizures are investigated by serum copper and ceruloplasmin levels after 1 month of age.

Clinical Pediatrics, Vol. 23, No. 9, 514-516 (1984)
DOI: 10.1177/000992288402300915
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S. G. Kaler, C. S. Holmes, D. S. Goldstein, J. Tang, S. C. Godwin, A. Donsante, C. J. Liew, S. Sato, and N. Patronas
Neonatal Diagnosis and Treatment of Menkes Disease
N. Engl. J. Med., February 7, 2008; 358(6): 605 - 614.
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