Preferred Label : Lethal short-limb skeletal dysplasia, al gazali type;
Type : Phenotype or locus, molecular basis unknown;
Description : Al Gazali et al. (1996) reported a female infant, born of double first cousins of
Pakistani origin, with large head, wide anterior fontanel, corneal clouding, atretic
auditory canals, severe shortness of limbs, especially of the distal segments, and
bilateral clubfoot. Skeletal survey showed sclerotic bones, occipital synchondrosis,
multiple wormian bones, platyspondyly, mesomelic shortening of the limbs, and shortening
of all phalanges and metacarpals, especially the first metacarpal. The infant died
a few minutes after birth. Al Gazali et al. (1996) could find no analogous cases in
the literature. They suggested that this case represented a 'new' autosomal recessive
form of skeletal dysplasia. Grigelioniene et al. (2011) described 2 unrelated patients
with al Gazali-type lethal skeletal dysplasia. The first was a female infant, born
to nonconsanguineous Swedish parents, who died at 20 minutes of age due to respiratory
failure. The mother's reproductive history included 1 spontaneous abortion, 1 healthy
boy, and 1 intrauterine fetal death. Clinical examination showed an abnormally stiff
body with short stature and a relatively big skull, with wide anterior fontanel, brachycephaly,
hypertelorism, short neck, low-set ears with narrow auditory meatus, disproportionately
short extremities with small hands and feet, severe brachydactyly and bilateral transverse
creases of the palms, hirsutism, hypoplastic thorax, relatively large abdomen, bilateral
abducted hips, and bilateral rigid clubfeet with small toes. Facial features were
distorted by edema, but showed a flat face and small flat nose. Autopsy findings also
showed hypoplastic frontal bones, broad occiput, and widened and abnormally shaped
major fontanel. Thorax and lungs were hypoplastic, and there was severe hydrops. No
structural abnormalities of the internal organs were evident. The second patient was
a female infant who was stillborn to nonconsanguineous Japanese parents at 26 weeks'
gestation. Clinical examination showed short stature with disproportionately short
extremities and brachydactyly with ulnar deviation of fingers 2, 3, and 4, flat face
with a small flat nose, hypertelorism, low-set deformed ears, and hirsutism. Pathologic
examination revealed fetal hydrops, pulmonary stenosis, branching anomaly of the subclavian
artery, and calcification of the left heart endocardium. Skeletal survey was similar
in both patients, and showed generally sclerotic bones, with short and poorly modeled
long tubular bones that had wide diaphyses and smooth, rounded metaphyses. Cortical
bones as well as vertebral endplates were thickened. The skull was sclerotic and brachycephalic
with prominent parietal bones and a large anterior fontanel. The thorax was hypoplastic
with short and broadened ribs, and mild platyspondyly was seen. All phalanges and
metacarpals were extremely short and the first metacarpal was triangular. Grigelioniene
et al. (2011) noted that the radiographic findings were similar to those of the original
case reported by al Gazali et al. (1996). Histologic analysis of bone tissue and the
growth plate showed completely normal structure, suggesting that skeletal dysplasia
of the al Gazali-type is a systemic disorder resulting in increased bone density and
restricted growth of the skeleton.;
Inheritance : Autosomal recessive;
Prefixed ID : %601356;
Origin ID : 601356;
UMLS CUI : C1832435;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
