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Central precocious puberty with hypothalamic hamartoma; the first case reports of two siblings with different phenotypes in Seckel syndrome 5
2022
Annals of Pediatric Endocrinology & Metabolism
Hypothalamic hamartomas (HHs) are non-neoplastic mass lesions located in the hypothalamus that presented with central precocious puberty (CPP), and/or gelastic seizures. Seckel syndrome (OMIM210600, SCKL) is a rare autosomal recessive genetic spectrum disorder characterized by intrauterine growth retardation, proportionate osteodysplastic primordial dwarfism, a wide range of intellectual disability, "bird-headed" facial features and microcephaly with various brain structural abnormalities. Two
doi:10.6065/apem.2244066.033
pmid:35798296
pmcid:PMC10556446
fatcat:lffb2cgb3zad5pw6yl2t5tuxp4