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BACKGROUND ACP5 deficiency is known to cause spondyloenchondrodysplasia (SPENCD), which is characterized by various autoimmune and neurological symptoms in addition to short stature. METHODS Two siblings from a consanguineous Turkish family, a girl aged 13 years (P1) and a boy aged 8 years (P2), presented to their endocrinologist with progressive growth failure and severe short stature (-5 SD...

Results There were 40 children with CH included in the study. Boys 12(30 %) and girls 28(70%). Age when diagnosed 0-3 months 4(10%), 3-6 months 2(5%), 6-12 months 9 (22,5%), 1-6 years 20(50%), 6-14 years 5(12,5%). Clinical manifestation: delayed development 27,5%, underweight 17,5%, acute respiratory infection 15%, constipation 12,5%, hypotonia 7,5%, speech delay 5%, short stature 5%, enlarged ...

Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia, generally identified clinically at two years of age due to decreased linear growth and a waddling gait. Radiographic features include small and irregular epiphyses, with metaphyseal changes of the long bones and characteristic vertebral changes. Mutations in the COMP gene cause PSACH and some cases of multiple epiphyseal ...

Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in protein kina...

Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other featuresincluded hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease,celiac, …) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has notbeen reported in Iran. We report a 9-year-old boy diagnosed as cartilag...

........................................................................................................................................................................ 4 Introduction.................................................................................................................................................................... 6 Characterization .................................

................................................................................................................................................................................ 4 Introduction ........................................................................................................................................................................... 6 Characterization..................

Ring Y chromosome is a very rare chromosomal aberration. The published mixed gonadal dysgenesis (MGD) patients with a ring Y chromosome are short in stature, but are not growth hormone (GH) deficient. We present the molecular cytogenetic and molecular characterization of ring Y chromosome mosaicism in a 10-year-old boy with MGD whose short stature could be explained by the high percentage of ce...