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Endocrine and reproductive disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Seckel syndrome (autosomal recessive) is a cause of severe growth failure and microcephaly and is the best recognised of the group of conditions known collectively as ‘microcephalic osteodysplastic primordial dwarfism’. Next-generation sequencing (NGS) gene panels are available to help achieve a diagnosis in this group.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Differential diagnosis: other diseases characterised by significant IUGR and prenatal onset microcephaly include MOPD type 2: relatively proportionate head size at birth, postnatal progression to severe microcephaly, progressive skeletal dysplasia, dislocated joints, characteristic facies, dysplastic or missing dentition. No brain abnormalities, but a proportion can show cerebral aneurysms and Moya Moya disease. Patients display a sociable personality and a high squeaky voice. Autosomal recessive, mutations in PCNT2 have been identified. Seckel syndrome: proportionate prenatal onset dwarfism, absence of skeletal dysplasia. Patients develop severe developmental delay and sometimes haematological abnormalities. Autosomal recessive, genetically heterogeneous, three loci identified, SCKL1 is caused by mutations in the gene ATR. Fetal alcohol syndrome: the more severe cases can show intrauterine growth retardation, microcephaly, cardiac abnormalities (septal defects, tetralogy of Fallot), brain abnormalities (microcephaly, agenesis of corpus callosum, cavum septum pellucidum, ventriculomegaly). Facial features are very typical and include short palpebral fissures, smooth and underdeveloped philtrum with a thin upper lip. Epiphyseal stippling has been reported, as well as short distal phalanges and transverse limb defects. Dubowitz syndrome: typical facial features, which consist of telecanthus, ptosis, blepharophimosis, prominent epicanthic folds, broad nasal tip, micrognathia. Ears are often dysplastic; occasionally cleft palate. Other particular features include sparse hair and eczema on the face and flexural areas.
Seckel syndrome presenting with complete heart block
Published in Baylor University Medical Center Proceedings, 2021
Mostafa Abohelwa, Mohamed Elmassry, Marina Iskandir, Brandon Rogers, Deephak Swaminath
Seckel syndrome is a rare (<1:10,000 live births) autosomal recessive disorder known as bird-headed dwarfism.1 It is characterized by intrauterine growth retardation, dwarfism, bird-headed facial appearance, microcephaly, and mental retardation.2 The syndrome was described by Seckel in 1960, and only about 170 cases have been reported in the literature.3,4 Seckel syndrome has been associated with different congenital abnormalities like congenital hearing loss as well as cardiac abnormalities. The association of Seckel syndrome with complete heart block (CHB) has been reported twice, by Çelenk et al and Unal et al.5,6 Here, we report the third case of Seckel syndrome associated with CHB.