Midface hypoplasias, frontal bossing and large with relative small skull base were common findings in bone survey for the selected cases. Homozygosity in achondroplasia gene results in a severe lethal skeletal, survival beyond infancy is rare. We wish to confirm that there are no known conflicts of interest associated with this publication and there has been no significant financial support for this work that could have influenced its outcome. Diagnosis of achondroplasia is based on clinical findings, radiographic features and genetic test results [ 11 ]. The hands were broad with short metacarpals and phalanges brachydactyly and a trident configuration. Skeletal radiographs can be used to confirm the diagnosis in cases with achondroplasia with specific age-related criteria [ 12 ]. The molecular results in this study will enable us to provide better prenatal molecular diagnosis of achondroplasia for families at high risk and try to provide perfect molecular diagnosis for achondroplastic fetuses that are found on prenatal ultrasound examinations to have short extremities but no family history of bone dysplasias.
The fibula is typically longer than the tibia. Anteroposterior view of the spine revealed caudal narrowing of the interpediculate distance, while lateral view of the spine revealed shortening of the pedicles with significant posterior scalloping Figure 2 and 3. Anteroposterior view of the spine revealed caudal narrowing of the interpediculate distance in all cases. The fibula was longer than the tibia. We confirm that the manuscript has been read and approved by all named authors and that there are no other persons who satisfied the criteria for authorship but are not listed. The pelvis has small square iliac wings, small short sacrosciatic notch, flat horizontal acetabular roof and short femoral neck with elongated trochanters. In our study, all cases were disproportionately short with short limbs mainly proximal rhizomelic ; they had relatively long narrow trunk. The hands were broad with short metacarpals and phalanges brachydactyly and a trident configuration. Exaggerated lumbar lordosis was noticed in most cases and kyphosis was seen in the first 5 cases. Achondroplasia was the first genetic disorder that was hypothesized to have a paternal age component. Hence, very few mutations are responsible for achondroplasia, it is phenotypically and genetically homogenous. The fibula was longer than the tibia. No dislocation of radial head was present. Prenatal diagnosis of homozygous achondroplasia can be done by mutation detection at 10 to 12 weeks of gestation as against 16 to 20 weeks by ultrasonographic examination [ 15 ]. Anteroposterior view of the spine revealed caudal narrowing of the interpediculate distance in all cases. Skeletal radiographs can be used to confirm the diagnosis in cases with achondroplasia with specific age-related criteria [ 12 ]. Eighty eight percent of cases in the present study were the offspring of non-consanguineous parents. Neurological examination revealed hypotonia in all cases. In our study, all cases were disproportionately short with short limbs mainly proximal rhizomelic ; they had relatively long narrow trunk. Acknowledgments We acknowledge all participants in the work for their patience and cooperation. Although clinical manifestations and radiological investigations are crucial for the diagnosis of achondroplasia, definitive diagnosis and prenatal diagnosis in high risk pregnancies are carried by molecular analysis [ 13 , 14 ]. No dislocation of radial head was present. Discussion Achondroplasia is by far the most common form of dwarfism in humans. If the specific mutation is found, it will help to differentiate between achondroplasia and other possible types of skeletal dysplasias, some of which might be lethal such as thanatophoric dysplasia, and provide accurate genetic counselling to the families in the future. Multiple skin creases were evident in most of the cases. Homozygosity in achondroplasia gene results in a severe lethal skeletal, survival beyond infancy is rare. Long bones are short and thick with metaphyseal flaring.
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