| 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". www.orpha.net. Retrieved 2022-06-08.
{{ cite web}}: CS1 maint: numeric names: authors list ( link) - ^ "OMIM Entry - 236640 - HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS". omim.org. Retrieved 2022-06-08.
- ^ "Growth delay-hydrocephaly-lung hypoplasia syndrome (Concept Id: C1856052) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-06-08.
- ^ 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): 276â279. doi: 10.1002/ajmg.1320330226. ISSN 0148-7299. PMID 2764038.
- ^ 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): 276â279. doi: 10.1002/ajmg.1320330226. ISSN 0148-7299. PMID 2764038.
| 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". www.orpha.net. Retrieved 2022-06-08.
{{ cite web}}: CS1 maint: numeric names: authors list ( link) - ^ "OMIM Entry - 236640 - HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS". omim.org. Retrieved 2022-06-08.
- ^ "Growth delay-hydrocephaly-lung hypoplasia syndrome (Concept Id: C1856052) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-06-08.
- ^ 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): 276â279. doi: 10.1002/ajmg.1320330226. ISSN 0148-7299. PMID 2764038.
- ^ 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): 276â279. doi: 10.1002/ajmg.1320330226. ISSN 0148-7299. PMID 2764038.