Medicine:Growth delay-hydrocephaly-lung hypoplasia syndrome
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| Growth delay-hydrocephaly-lung hypoplasia syndrome | |
|---|---|
| Other names | Game-Friedman-Paradice syndrome |
 | |
| Specialty | Medical genetics |
| Symptoms | growth delays and brain-lung abnormalities |
| Complications | Incompatibility with life |
| Usual onset | neo-natal |
| Duration | - |
| Causes | Autosomal recessive inheritance |
| Prevention | none |
| Prognosis | Bad |
| Frequency | very rare, only 4 cases have been described in medical literature |
Growth delay-hydrocephaly-lung hypoplasia syndrome, also known as Game-Friedman-Paradice syndrome is a very rare hereditary disorder which is characterized by developmental, lung, and brain anomalies.[1] Only 4 cases have been reported in medical literature.[2]
Signs and symptoms
The following is a list of the symptoms usually shown by fetuses with the disorder:[3]
- Delayed fetal growth
- Hydrocephaly
- Sylvius patent aqueduct
- Micrognathia
- Poorly developed (hypoplastic) lungs
- Malrotated intestines
- Omphalocele
- Shortening of the lower limbs
- Tibia bowing
- Generalized foot abnormalities
History
It was first discovered in 1989, by Game et al. when they described 4 fetus siblings (3 females, 1 male) born to healthy, non-consanguineous parents with all the symptoms mentioned above. The siblings were terminated and all of them (post-mortem examination) had a size similar to fetuses of younger gestational age.[4][5]
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Growth delay hydrocephaly lung hypoplasia syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3035.
- ↑ "OMIM Entry - 236640 - HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS" (in en-us). https://omim.org/entry/236640#1.
- ↑ "Growth delay-hydrocephaly-lung hypoplasia syndrome (Concept Id: C1856052) - MedGen - NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/344639.
- ↑ Game, K.; Friedman, J. M.; Paradice, B.; Norman, M. G. (1989-06-01). "Fetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibs" (in en). American Journal of Medical Genetics 33 (2): 276–279. doi:10.1002/ajmg.1320330226. ISSN 0148-7299. PMID 2764038. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320330226.
- ↑ Game, K.; Friedman, J. M.; Paradice, B.; Norman, M. G. (1989-06-01). "Fetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibs". American Journal of Medical Genetics 33 (2): 276–279. doi:10.1002/ajmg.1320330226. ISSN 0148-7299. PMID 2764038. https://pubmed.ncbi.nlm.nih.gov/2764038/.
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