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11 Cards in this Set

  • Front
  • Back
Clinical
Inheritance
Autosomal recessive; 2q34 q36 gene locus
Prenatal
None listed
Incidence
Very rare approximateIy 25 cases reported; M=F
Age at Presentation
By 2 years old
Pathogenesis
Unknown
Clinical
Hair
Pili torti with/without alopecia of scalp; eyebrows, eyelashes unaffected

Ear Nose Throat
Bilateral sensorineural deafness
D/Dx
Crandall syndrome (pili torti, deafness, hypogonadism)
Menkes' syndrome
Lab
Auditory testing
Management
Referral to audiologist
Prognosis
Normal intelligence, life span; hearing loss mild to severe with increased severity associated with more severe hair defects