OMIM 273750
Genetic defect: mutations in cullin 7 (CUL7) on 6p21.1
Inheritance: autosomal recessive
Patients have
(1) defective ubiquination
(2) a generalized defect in connective tissue, producing very little type III collagen.
Clinical features:
(1) intrauterine growth retardation with low birthweight
(2) defective postnatal growth with short stature
(3) dysmorphic facial features ("hatchet face")
(3a) broad forehead with frontal bossing
(3b) triangular facial outline
(3c) flat maxillae and midface hypoplasia
(3d) prominent chin (square or pointed)
(3e) prominent mouth and lips
(3f) short, broad neck
(3g) prominent ears
(3h) fleshy tipped nose with anteverted nares
(3i) dolicocephaly
(3j) long philtrum
(4) normal intelligence
(5) skeletal abnormalities
(5a) tall vertebrae
(5b) slender long bones
(5c) winged scapulae
(5d) short thorax
(5e) deformed sternum (pectus deformity)
(5f) hyperlordosis and/or scoliosis
(5g) prominent heels
Some of the facial features may become less prominent as the person becomes older so it is important to examine early childhood pictures.
