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Langer-giedion syndrome: a distinct phenotype.

George R, Najmuddin F, Rai R, Lahiri K - Iran J Pediatr (2014)

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, KJ Somaiya Medical College.

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Trichorhinophalangeal syndrome type II (TRPS2) is also known as Langer-Giedion syndrome (LGS)... TRPS2 combines features of trichorhinophalangeal syndrome type I (TRPS1) and multiple exostoses... Multiple cartilaginous exostoses distinguishes TRPS2 from TRPS1... Exostoses are multiple projections of bone capped by cartilage, mostly seen in the metaphyses as well as diaphyses of long bones... TRPS2 is a true contiguous gene deletion syndrome with deletions in both TRPS1 and EXT1 genes on chromosome 8q24.1-q24.13... Multiple cartilaginous exostoses were noted over the ribs, elbows, wrists, knees and back (Fig. 2)... Systemic examination revealed no abnormality... Differential diagnosis includes Trichorhino-phalangeal syndrome type 1 which has similar dysmorphic features to Langer-Giedion syndrome but without exostoses... Others include metachondromatosis in which the exostoses are primarily seen in the hands and feet along with enchondromata in the ends of long bones and iliac crests... Most of the metachondromatoses regress spontaneously... The other differential diagnosis is 11p11 deletion syndrome (OMIM 601224) which is also characterised by the presence of multiple exostoses but is differentiated from Langer-Giedion syndrome by the presence of cutaneous syndactyly, skull abnormalities like brachycephaly, turricephaly, enlarged parietal foramina and craniofacial dysostosis... Treatment in Langer-Giedion syndrome is usually supportive but in case of complications due to exostoses such as pain, limited range of joint movement, pressure on nerves, blood vessels, the spinal cord, and tissues, surgical intervention is necessary... To conclude, our case is an unusual one, as the child presented as a classical LGS phenotype with multiple exostoses and typical dysmorphic features but without a gene deletion in the TRPS1 and EXT1 genes. (A similar case was presented by Pereza et al, 2012)

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Classical dysmorphic features showing hypertelorism, bushy eyebrows, low set ears, large philtrum, prognathism, upturned nares
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Figure 1: Classical dysmorphic features showing hypertelorism, bushy eyebrows, low set ears, large philtrum, prognathism, upturned nares

Mentions: On examination, her weight and height were below the 3rd percentile for age. Facial dysmorphism was noted which included microcephaly, sparse hair, bushy eyebrows, hypertelorism, long philtrum, micrognathia, high arched palate, poor dentition, low set ears, deformed ear cartilage and auricular sinus (Fig. 1). Limb deformities in the form of clinodactyly and overlapping of toes were observed. Multiple cartilaginous exostoses were noted over the ribs, elbows, wrists, knees and back (Fig. 2). Systemic examination revealed no abnormality.


Langer-giedion syndrome: a distinct phenotype.

George R, Najmuddin F, Rai R, Lahiri K - Iran J Pediatr (2014)

Classical dysmorphic features showing hypertelorism, bushy eyebrows, low set ears, large philtrum, prognathism, upturned nares
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4359424&req=5

Figure 1: Classical dysmorphic features showing hypertelorism, bushy eyebrows, low set ears, large philtrum, prognathism, upturned nares
Mentions: On examination, her weight and height were below the 3rd percentile for age. Facial dysmorphism was noted which included microcephaly, sparse hair, bushy eyebrows, hypertelorism, long philtrum, micrognathia, high arched palate, poor dentition, low set ears, deformed ear cartilage and auricular sinus (Fig. 1). Limb deformities in the form of clinodactyly and overlapping of toes were observed. Multiple cartilaginous exostoses were noted over the ribs, elbows, wrists, knees and back (Fig. 2). Systemic examination revealed no abnormality.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, KJ Somaiya Medical College.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Trichorhinophalangeal syndrome type II (TRPS2) is also known as Langer-Giedion syndrome (LGS)... TRPS2 combines features of trichorhinophalangeal syndrome type I (TRPS1) and multiple exostoses... Multiple cartilaginous exostoses distinguishes TRPS2 from TRPS1... Exostoses are multiple projections of bone capped by cartilage, mostly seen in the metaphyses as well as diaphyses of long bones... TRPS2 is a true contiguous gene deletion syndrome with deletions in both TRPS1 and EXT1 genes on chromosome 8q24.1-q24.13... Multiple cartilaginous exostoses were noted over the ribs, elbows, wrists, knees and back (Fig. 2)... Systemic examination revealed no abnormality... Differential diagnosis includes Trichorhino-phalangeal syndrome type 1 which has similar dysmorphic features to Langer-Giedion syndrome but without exostoses... Others include metachondromatosis in which the exostoses are primarily seen in the hands and feet along with enchondromata in the ends of long bones and iliac crests... Most of the metachondromatoses regress spontaneously... The other differential diagnosis is 11p11 deletion syndrome (OMIM 601224) which is also characterised by the presence of multiple exostoses but is differentiated from Langer-Giedion syndrome by the presence of cutaneous syndactyly, skull abnormalities like brachycephaly, turricephaly, enlarged parietal foramina and craniofacial dysostosis... Treatment in Langer-Giedion syndrome is usually supportive but in case of complications due to exostoses such as pain, limited range of joint movement, pressure on nerves, blood vessels, the spinal cord, and tissues, surgical intervention is necessary... To conclude, our case is an unusual one, as the child presented as a classical LGS phenotype with multiple exostoses and typical dysmorphic features but without a gene deletion in the TRPS1 and EXT1 genes. (A similar case was presented by Pereza et al, 2012)

No MeSH data available.


Related in: MedlinePlus