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Coffin-Lowry syndrome (CLS) is a rare X-linked disorder that, usually affects males, presenting with intellectual disability, short stature, growth retardation, short hands, hyperextensible fingers and progressive kyphoscoliosis. Due to skewed X chromosome inactivation, the clinical presentations of the affected females vary greatly and clinical manifestations could range from mild intellectual disability to typical features of CLS in males. Here, we reported two different novel RPS6KA3 gene mutations in two unrelated CLS patients and also described concomitant compulsive eyebrow-pulling behavior in one of these cases for the first time in the literature. [ABSTRACT FROM AUTHOR]

Coffin-Lowry syndrome (CLS) is an X-linked disorder, which affects hemizygous males more severely than females. It is characterized by mental retardation, short stature, head and facial abnormalities, skeletal anomalies and developmental delays. The signs and symptoms vary in different people. We report a 14-year-old male patient, diagnosed with CLS based on his clinical features. Genetic testing revealed a de novo mutation in ribosomal protein S6 kinase alpha-3 (RPS6KA3) gene (c.2185C>T; p. Arg729Trp). This is the first molecularly confirmed case report of a patient with CLS from Iran. [ABSTRACT FROM AUTHOR]

Premature tooth loss is a disastrous situation that affects deciduous or permanent teeth era with different causes. It may be attributed to some disorders like Papillon-Lefevre syndrome or coffin-lowry syndrome but because of ambiguous nature, precise diagnosis is not easily possible. Moreover, it has very low incidence and defines by few and limited case series, with vague characters to some extent, confusion in detecting the right diagnosis is a common possibility. Hence, it is expectable to have a wrong diagnosis for this case. In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having blindness in left eye and palmar keratosis is reported, although he had some other manifestation of oculodentodigital dysplasia (ODDD) like ataxia, dysarthria and nail deformity, ignoring other extra and intra oral finding. He was diagnosed as Papillon-Lefevre syndrome already, just because of early tooth loss and palmar keratosis. [ABSTRACT FROM AUTHOR]