A case of severe growth retardation, probably Seckel syndrome

Dumitrescu, C

doi:10.4183/aeb.2010.361

Cited by 3 publications

(3 citation statements)

References 29 publications

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“…Endocrine abnormalities are not well known in Seckel's Syndrome, but Dimitrescu et al reported an empty sella without pituitary deficits (26), and Di Blasi et al described a pituitary hypoplasia with lack in growth hormone (GH) stimulation (27). Deficit in corticotropin hormone or ACTH was observed by Kajantie et al (28).…”

Section: Discussionmentioning

confidence: 99%

“…In our case, the endocrine assessment was normal even for growth hormone under stimulation by glucagon propanolol test, and IGF1. The natural history of growth retardation and facial characteristics of Seckel's Syndrome raise some potential differential diagnoses, especially osteodysplastic primordial dwarfisms (OPDs) type I, II, and III and Russel-Silver's Syndrome (26). As our patient did not have any bone abnormality (except for kyphoscoliosis) the OPDs were not discussed.…”

Section: Discussionmentioning

confidence: 99%

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Seckel's-like syndrome with primordial dwarfism, marked mental retardation, and severe heart malformation

Chentli

Belahcene

Azzoug

2013

Ibnosina Journal of Medicine and Biomedical Sciences

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Introduction: Seckel's Syndrome, also called "Bird headed" syndrome was first described by Seckel in 1960. The very rare genetic and heterogeneous disorder, inherited in an autosomal recessive manner, is characterized by severe proportionate dwarfism of prenatal onset with mental retardation, dysmorphic facial features like a bird's with microcephaly, large beaked nose, and micrognathia. Our aim was to describe a typical case and give a focused literature review. Case report: A boy aged 7, with a birth weight of 1.9kg, whose parents are first cousins, was referred to our department for severe dwarfism. His mother reported hyperactivity and mental retardation. He weighed 8kg, measured 81cm (-6SD) and his cranial perimeter was 31 cm. He had a bird-like face with receding chin and forehead, large eyes, and prominent nose. In addition to his dysmorphic face, clinical examination showed kyphoscoliosis, flat feet, hypospadias and a systolic heart murmur heard in the pulmonic area of the chest, radiating into the back. There was no sign of right cardiac insufficiency. Echocardiography showed a large atrial-septal defect with enlarged right atrium and ventricle. Routine and haematological analyses were normal. Endocrine assessment was normal even for growth hormone and insulin growth factor (IGF-1). Psychological examination argued for severe mental retardation. Genetic screening was not available because of parents' low socioeconomic status. Conclusion: Consanguinity, intra and post natal severe dwarfism, mental retardation, body malformations with typical bird-headed aspect most likely indicate a diagnosis of Seckel's Syndrome worth being reported for its rarity.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Seckel's-like syndrome with primordial dwarfism, marked mental retardation, and severe heart malformation

Chentli

Belahcene

Azzoug

2013

Ibnosina Journal of Medicine and Biomedical Sciences

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“…It appears likely, that reduced IGF1 levels might rather be a reflection of severe IUGR without catch-up growth and low BMI [27] . Noteworthy, the endocrine state in patients with PCNT mutations has not been evaluated systematically, but IGF1 levels in Seckel and MOPD II patients have been reported occasionally to be normal [28] , [29] , elevated [30] , [31] or low [28] , [30] , [32] .…”

Section: Discussionmentioning

confidence: 99%

Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

et al. 2012

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Intrauterine and postnatal longitudinal growth is controlled by a strong genetic component that regulates a complex network of endocrine factors integrating them with cellular proliferation, differentiation and apoptotic processes in target tissues, particularly the growth centers of the long bones. Here we report on a patient born small for gestational age (SGA) with severe, proportionate postnatal growth retardation, discreet signs of skeletal dysplasia, microcephaly and moyamoya disease. Initial genetic evaluation revealed a novel heterozygous IGF1R p.Leu1361Arg mutation affecting a highly conserved residue with the insulin-like growth factor type 1 receptor suggestive for a disturbance within the somatotropic axis. However, because the mutation did not co-segregate with the phenotype and functional characterization did not reveal an obvious impairment of the ligand depending major IGF1R signaling capabilities a second-site mutation was assumed. Mutational screening of components of the somatotropic axis, constituents of the IGF signaling system and factors involved in cellular proliferation, which are described or suggested to provoke syndromic dwarfism phenotypes, was performed. Two compound heterozygous PCNT mutations (p.[Arg585X];[Glu1774X]) were identified leading to the specification of the diagnosis to MOPD II. These investigations underline the need for careful assessment of all available information to derive a firm diagnosis from a sequence aberration.

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