Meier-Gorlin syndrome

Abstract

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-retrognathia. During ageing, a narrow, convex nose becomes more prominent. The diagnosis MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. In patients with short stature and/or microtia, the patellae should be assessed with care by ultrasonography before age 6 or radiography thereafter. Mutations in one of five genes (ORC1, ORC4, ORC6, CDT1, and CDC6) of the pre-replication complex, involved in DNA-replication, are detected in approximately 67-78 % of patients with MGS. Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly.Management should be directed towards in-depth investigation, treatment and prevention of associated problems, such as growth retardation, feeding problems, hearing loss, luxating patellae, knee pain, gonarthrosis, and possible pulmonary complications due to congenital pulmonary emphysema with or without broncho- or laryngomalacia. Growth hormone treatment is ineffective in most patients with MGS, but may be effective in patients in whom growth continues to decrease after the first year of life (usually growth velocity normalizes after the first year) and with low levels of IGF1. At present, few data is available about reproduction of females with MGS, but the risk of premature labor might be increased.Here, we propose experience-based guidelines for the regular care and treatment of MGS patients.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-015-0322-x) contains supplementary material, which is available to authorized users.

Primordial Dwarfism: A Case Series From North East of Iran and Literature Review

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High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing

“…Only 63 cases have been described in the literature so far [38][39][40]. Only 63 cases have been described in the literature so far [38][39][40].…”

Genome‐wide association studies of structural birth defects: A review and commentary

“…Most birth defects have unknown causes (Nelson & Holmes, ); however, there is strong evidence that genetic factors contribute to their etiologies. To date, much of what is known about the genetics of birth defects includes effects of high‐risk alleles that cause rare multiple malformation syndromes (Belmont, Mohapatra, Towbin, & Ware, ; de Munnik et al, ; Lewin, Glass, & Power, ; Maslen, ; Mori & Bruneau, ; Yates, Turner, Firth, Berg, & Pilz, ). Such alleles occur at very low frequency in the general population and explain relatively little of the population burden of birth defects.…”