An autosomal recessive disorder characterized by
dolichocephaly, sagittal suture synostosis, sparse and slow-growing fine
hair, hypertelorism, nystagmus, taurodontia, dental fusion, anteverted
nares, brachydactyly, clinodactyly, narrow thorax leading to respiratory
problems, and mild mental retardation.
Cranioectodermal Dysplasia; Levin Syndrome I.
Clinical and radiological features. Radiological
features include generalized osteoporosis with shortening of the ribs and
long bones, particularly the humeri and fibulae; distal phalanges are short
and broad; the epiphysis of long bones tends to be flattened; the vertebral
bodies have convex upper and lower surfaces with short pedicles in lumbar
spine area; the skull shows dolichocephaly, in association with premature
fusion of sagittal synostosis.
Craniofacial: dolichocephaly is most characteristic
(in some cases, it is caused by sagittal suture synostosis); hypertelorism; epicanthic
folds; broad nasal bridge; anteverted nares; everted lower lip; high-arched palate. Chest: narrow thorax, mild pectus excavatum. Limbs: short, bowed limbs with
rhizomelia (arms more affected); brachydactyly; single palmar crease, short, broad toes.
Ectodermal: nails are short and stubby; scalp hair is fine, sparse, slow-growing
with absence of central pigment core on microscopy; teeth are few, small, and widely
spaced. Other reported features include congenital heart disease with cor triatrium in
one case. A cor triatum is an anomaly where the pulmonary vein is not attached to the left
atrium, but rather empties in an accessory chamber superior to the left atrium, simulating
a mitral valve stenosis. Subsequent photophobia and chronic renal failure has also been
described in some cases. All patients have normal intellect but growth is mildly
retarded. Most of the premature deaths are respiratory related.
Patients must be assessed for respiratory
function with examination, chest radiography, arterial blood gas analysis, and oxygen
requirements (multiple chest infections are frequent). Assess
for cardiac defect with examination, chest radiography, ECG, echocardiogram,
and cardiac catheterization when suspected. Biochemistry test, including
potassium, creatinine, and urea, must be obtained to assess renal function. Abnormal
calcium homeostasis has been reported.
No reported experience. Position head
appropriately for tracheal intubation considering the abnormally shaped
head, frontal bossing, and occipital protuberance. Potential for ventilation problems in
presence of a narrow thorax and frequent respiratory infections. Intravenous access may be
difficult with abnormal limbs.
There are no known pharmacological implications
with this condition.
Levin L, Perrin J, Ose L, et al: A heritable syndrome of
craniosynostosis, short thin hair, dental abnormalities, and short limbs:
Cranioectodermal dysplasia. J Pediatr
Young I: Cranioectodermal dysplasia (Sensenbrenner's syndrome). J Med Genet