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A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations.
Am J Med Genet. 1984 Oct; 19(2):255-64.AJ

Abstract

Three cases of a lethal malformation syndrome with severe visceral anomalies were seen in two families and include one pair of sibs. The predominating external manifestations are mesomelic dwarfism, micrognathia, V-shaped upper lip, microglossia, thick alveolar ridges, ambiguous genitalia, webbed neck, highly arched palate, clubfeet, fused fontanelles, inclusion cysts of the tongue, four-finger creases, digital anomalies, apparently low-set ears, widely spaced nipples, and dislocated thighs and forearms. The internal findings include oligopapillary renal hypoplasia, severe congenital heart defect, cerebellar hypoplasia, pulmonary hypoplasia, hypoplastic larynx, and hypoplastic gallbladder. Other findings from the two autopsies and one clinical investigation not documented in all three patients include unilobar lungs, hydrocephalus, cataracts, microphthalmia, polydactyly, islet cell hyperplasia, suprapubic skin crease, urethral anomalies, and a decreased number of turns of the cochlea. The hypoplasia seen in the several affected organs is similar to the disordered development seen in experimental models of branching epithelial morphogenesis in which mesenchymal-epithelial interaction has been disrupted.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6507477

Citation

Rutledge, J C., et al. "A "new" Lethal Multiple Congenital Anomaly Syndrome: Joint Contractures, Cerebellar Hypoplasia, Renal Hypoplasia, Urogenital Anomalies, Tongue Cysts, Shortness of Limbs, Eye Abnormalities, Defects of the Heart, Gallbladder Agenesis, and Ear Malformations." American Journal of Medical Genetics, vol. 19, no. 2, 1984, pp. 255-64.
Rutledge JC, Friedman JM, Harrod MJ, et al. A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. Am J Med Genet. 1984;19(2):255-64.
Rutledge, J. C., Friedman, J. M., Harrod, M. J., Currarino, G., Wright, C. G., Pinckney, L., & Chen, H. (1984). A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. American Journal of Medical Genetics, 19(2), 255-64.
Rutledge JC, et al. A "new" Lethal Multiple Congenital Anomaly Syndrome: Joint Contractures, Cerebellar Hypoplasia, Renal Hypoplasia, Urogenital Anomalies, Tongue Cysts, Shortness of Limbs, Eye Abnormalities, Defects of the Heart, Gallbladder Agenesis, and Ear Malformations. Am J Med Genet. 1984;19(2):255-64. PubMed PMID: 6507477.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. AU - Rutledge,J C, AU - Friedman,J M, AU - Harrod,M J, AU - Currarino,G, AU - Wright,C G, AU - Pinckney,L, AU - Chen,H, PY - 1984/10/1/pubmed PY - 1984/10/1/medline PY - 1984/10/1/entrez SP - 255 EP - 64 JF - American journal of medical genetics JO - Am J Med Genet VL - 19 IS - 2 N2 - Three cases of a lethal malformation syndrome with severe visceral anomalies were seen in two families and include one pair of sibs. The predominating external manifestations are mesomelic dwarfism, micrognathia, V-shaped upper lip, microglossia, thick alveolar ridges, ambiguous genitalia, webbed neck, highly arched palate, clubfeet, fused fontanelles, inclusion cysts of the tongue, four-finger creases, digital anomalies, apparently low-set ears, widely spaced nipples, and dislocated thighs and forearms. The internal findings include oligopapillary renal hypoplasia, severe congenital heart defect, cerebellar hypoplasia, pulmonary hypoplasia, hypoplastic larynx, and hypoplastic gallbladder. Other findings from the two autopsies and one clinical investigation not documented in all three patients include unilobar lungs, hydrocephalus, cataracts, microphthalmia, polydactyly, islet cell hyperplasia, suprapubic skin crease, urethral anomalies, and a decreased number of turns of the cochlea. The hypoplasia seen in the several affected organs is similar to the disordered development seen in experimental models of branching epithelial morphogenesis in which mesenchymal-epithelial interaction has been disrupted. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6507477/A_"new"_lethal_multiple_congenital_anomaly_syndrome:_joint_contractures_cerebellar_hypoplasia_renal_hypoplasia_urogenital_anomalies_tongue_cysts_shortness_of_limbs_eye_abnormalities_defects_of_the_heart_gallbladder_agenesis_and_ear_malformations_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1984&volume=19&issue=2&spage=255 DB - PRIME DP - Unbound Medicine ER -