Abstract Néstor‐Guillermo progeria syndrome (NGPS; OMIM 614008) is characterized by early onset and slow progression of symptoms including poor growth, lipoatrophy, pseudosenile facial appearance, and normal cognitive development. In contrast to other progeria syndromes, NGPS is associated with a longer lifespan and higher risk for developing severe skeletal abnormalities. It is an autosomal recessive condition caused by biallelic pathogenic variants in BANF1 . There are two previously reported...
Wed Aug 12, 2020 12:00
Abstract Acrodysostosis refers to a rare heterogeneous group of bone dysplasias that share skeletal features, hormone resistance, and intellectual disability. Two genes have been associated with acrodysostosis with or without hormone resistance (PRKAR1A and PDE4D ). Severe intellectual disability has been reported with acrodysostosis but brain malformations and ichthyosis have not been reported in these syndromes. Here we describe a female patient with acrodysostosis, intellectual disability, cerebellar...
Tue Aug 11, 2020 21:05
Abstract Roberts syndrome (also known as Roberts‐SC phocomelia syndrome) is an autosomal recessive developmental disorder, characterized by pre‐ and postnatal growth retardation, limb malformations including bilateral symmetric tetraphocomelia or mesomelia, and craniofacial dysmorphism. Biallelic loss‐of‐function variants in ESCO2 , which codes for establishment of sister chromatid cohesion N‐acetyltransferase 2, cause Roberts syndrome. Phenotypic spectrum among patients is broad, challenging clinical...
Tue Aug 11, 2020 21:01
Abstract Agnathia is a rare congenital malformation with unknown etiology characterized by absence of the mandible, microstomia, and tongue aplasia, often found to have other anomalies including holoprosencephaly. The purpose of this paper was to describe the symptoms and imaging of a case of isolated agnathia and to conduct a comprehensive literature review of reported patients with isolated agnathia. Case reports of isolated agnathia are very rare, with most infants as stillborn. We report a child's...
Tue Aug 11, 2020 21:01
Abstract Short‐rib polydactyly syndromes are a heterogeneous group of disorders characterized by narrow thorax with short ribs, polydactyly and often other visceral and skeletal malformations. To date there have only been six reported patients with homozygous and compound heterozygous variants in IFT81 , causing a short‐rib thoracic dysplasia, with, or without, polydactyly (SRTD19: OMIM 617895). IFT81 is a protein integral to the core of the intraflagellar transport complex B (IFT‐B), which is involved...
Tue Aug 11, 2020 20:45
Abstract Witteveen–Kolk syndrome (WITKOS) is a rare neurodevelopmental disorder characterized by developmental delay/intellectual disability, facial dysmorphisms, and short stature. The syndrome is caused by loss of function of switch‐insensitive 3 transcription regulator family member A (SIN3A ). Regarding behavioral functioning, Autism Spectrum Disorders (ASD), obsessive–compulsive behaviors, as well as Attention‐Deficit/Hyperactivity Disorder symptoms (ADHD) have been suggested. The present study...
Tue Aug 11, 2020 20:33
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