PubMed · 5505692
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J M Winkler, E D Weinstein. 1970. Imperforate anus and heredity.. https://doi.org/10.1016/0022-3468(70)90009-6
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Generally fan forced area heaters are considered to be incapable of causing burn injury. A case is presented where such a heater was used to prevent post-operative hypothermia after cut-back anoplasty to correct low anorectal malformation (imperforate anus) in a premature neonate. The neonate sustained dermo-epidermal (second degree) burns to the abdominal wall and right forearm which were swaddled with cloth and deep (third degree) burns to the fingers of left hand that were exposed as intravenous line was inserted at dorsum of the hand.
Shprintzen and Goldberg [1979] described a new autosomal dominant syndrome characterized by omphalocele, scoliosis, pharyngeal and laryngeal hypoplasia, mild dysmorphic face, and learning disabilities. This condition was described in a father and three daughters, one of whom died in infancy, probably of airway narrowing. Here, we report on a second observation of this syndrome in a 6-year-old patient. In our case, omphalocele, imperforate anus, and feeding impairment were the main clinical problems in the neonatal period. Scoliosis appeared during the fourth year of age. The facial appearance is similar to the original patients and additional clinical findings are described which expand the phenotypic spectrum.