Menkes disease

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 2

                       


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PMID (PMCID)
19175025
 MALE Infant
[Case report : respiratory care for anesthesia in a patient with Menkes syndrome and micrognathia].
Sato R, Okutani K, Higashi T, Satou M, Fujimoto K, Okazaki K.
Masui. 2009;58(1):103-5.
[Case report : respiratory care for anesthesia in a patient with Menkes syndrome and micrognathia].
9788559
 FEMALE Infant, Newborn
Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease.
Sugio Y, Sugio Y, Kuwano A, Miyoshi O, Yamada K, Niikawa N, Tsukahara M.
Am J Med Genet. 1998;79(3):191-4.
A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease.