Crane-Heise syndrome

Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.

Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).


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PMID (PMCID)
21094705
FEMALE Infant, Newborn
Crane-Heise syndrome: two further case reports.
Petit F, Devisme L, Toutain A, Houfflin-Debarge V, Dieux-Coeslier A, Manouvrier-Hanu S, Andrieux J, Holder-Espinasse M.
Eur J Med Genet. 2011;54(2):169-72.
Crane-Heise syndrome is a rare lethal and autosomal recessive condition which has been first reported in 1981 in three siblings presenting intrauterine growth retardation, a poorly mineralised calvarium, characteristic facial features comprising cleft lip and palate, hypertelorism, anteverted nares, low-set and posteriorly rotated ears, vertebral anomalies and absent clavicles.