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The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients 总被引:7,自引:0,他引:7
We describe a lethal malformation syndrome in 28 newborn infants from 18 families. The main manifestations were hydrocephalus (often with an unusual structure of the brain and the occipital bone), very small mandible, Polydactyly, congenital heart defect, abnormalities of the respiratory organs, and (different from the Meckel syndrome) normal kidneys. Polyhydramnios and stillbirth or neonatal death were the rule. Autosomal recessive inheritance is evident. This syndrome is another in the group of rare recessive disorders which are found in Finland. Because of the 25 % recurrence risk and possibilities for prenatal diagnosis, this syndrome should be recognized by paediatricians and, because of the frequent stillbirths, also by obstetricians and pathologists. The name hydrolethalus syndrome (hydramnios, hydrocephalus, lethality) may be of help in this. 相似文献
3.
Rock art in the Four Corners area often includes pictures of hands and feet, which may be representational or symbolic. There is correlation between actual metatarsal bones and carvings of polydactyl feet. No duplicated hand bones have been found, but we postulate petroglyphs of polydactyl hands are a reflection of a real congenital difference. 相似文献
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目的 通过对中国福建地区汉族散在的多指(趾)、短指畸形患者中HOXD13基因的分析,了解其是否存在基因突变.方法 采集2012年12月至2013年4月在福建医科大学附属第一医院整形外科接受治疗的多指(趾)和短指畸形患者6例,以及其父母、祖父母、外祖父母和本科室医务人员在内的正常志愿者40例外周血标本,常规提取基因组DNA;采用聚合酶链反应、琼脂糖凝胶电泳方法及DNA序列分析法,对6例散在型患者及40例正常志愿者HOXD13基因进行分析.结果 6例患者均无家族史,其中5例HOXD13基因第1外显子发生c.291C >T(p.A60A)杂合同义突变,1例短指患者及40例志愿者均未发现有HOXD13基因突变.结论 中国汉族散在型多指(趾)畸形的出现,可能与HOXD13基因的高频杂合同义突变c.291C>T(p.A60A)有关. 相似文献
6.
Kazuya Matsumoto Hideki Nakanishi Yoshio Koizumi Takuya Seike Yukiho Tanimoto Masahiko Yokozeki 《Journal of plastic surgery and hand surgery》2013,47(6):368-372
We used distraction osteogenesis to correct six deformed thumbs in four patients ranging in age from 4 to 7 years. Two of the patients had Apert syndrome (syndromic craniosynostosis with symmetrical syndactyly) and two had polydactyly. We used a small fixator with a ball joint and successfully corrected the angular deformity after lengthening the proximal phalanx by distraction. This single inclusive procedure was extremely useful. We found the optimal distraction regimen for the digital phalanx was a one day waiting period and lengthening at 1 mm/day. The mean healing indexes were 37.2 days/cm (range 24.2 to 41.5) in those with Apert syndrome and 64.3 days/cm in those with polydactyly (62.5 and 66.0). Our results suggest that osteogenesis at the distraction site may be quicker in patients with Apert syndrome than in those with polydactyly. 相似文献
7.
Masamitsu Kuwahara Mitsuo Hatoko Hideyuki Tada Aya Tanaka Satoshi Yurugi Kumi Mashiba 《Journal of plastic surgery and hand surgery》2013,47(1):60-63
A 9-year-old boy presented with a rudimentary medial metatarsal non-ossified structure. We considered his condition to be classified as hypoplastic medial member type in the metatarsal type of medial ray polydactyly. When it was considered as polydactyly, it had the longest delay of ossification among reported cases. 相似文献
8.
Oded Zamir Amram Hadary Raphael Udassin Shemuel Nissan 《Pediatric surgery international》1987,2(6):362-364
A newborn female infant presented with a lower abdominal mass and sepsis. Radiologic and ultrasonic studies established the diagnosis of pyocolpos. Surgical drainage was successfully carried out. Hydrocolpos is an uncommon anomaly resulting from imperforate hymen or atresia of the vagina. It usually presents in the first few weeks of life as an asymptomatic abdominal mass or with symptoms due to compression of adjacent structures by the enlarged vagina. Rarely, pyocolpos results from an infected hydrocolpos, usually associated with vaginal atresia rather than imperforate hymen. It may cause life-threatening sepsis; early diagnosis and prompt surgical drainage are therefore essential. The infant described demonstrates the diagnostic approach and the management of pyocolpos.
Offprint requests to: O. Zamir 相似文献
9.
The hydrolethalus syndrome is an autosomal recessive malformation syndrome which has been recently described in Finland. The
name hydrolethalus refers to the main findings, namely polyhydramnios, hydrocephalus and lethality. The patients are either
stillborn or die soon after birth. The typical roentgenologic findings are hypoplasia of the tibia associated with the anomalies
of the respective bone ray, e.g. metatarsus primus varus atavisticus, hallux varus or hallux duplex varus and hydrocephalus
with extreme micrognathia and a specific midline defect of the occipital bone. 相似文献
10.
Zusammenfassung Agenesie der Tibia mit beidseitiger Verdoppelung der Fibula und spiegelbildlicher Anordnung von 2×4 dreigliedrigen Zehen wird bei dem Kind einer Frau festgestellt, welche die gleiche Anomalie auf einer Seite, eine prähallukale Polydaktylie bei erhaltener Tibia auf der anderen Seite aufweist. Ein gleicher Fall ist nicht bekannt. Ähnliche Fälle von präaxialer Polydaktylie aus der Literatur mit oder ohne Tibiadefekt, mit oder ohne eine analoge Anomalie der oberen Extremitäten (Doppelung und Triphalangie des Daumens) werden zusammengestellt. Aus ihnen werden 4 Mißbildungstypen gebildet, die durch dominante Gene verusacht zu sein scheinen.
Agenesia of the tibia, duplication of the fibula and mirror foot in mother and child
Bilateral agenesia of the tibia, bilateral duplication of the fibula and a mirror foot are studied in a child. His mother exhibits the same malformation on one side of the body, prehallucal polydactyly with the tibia, intact on the other side. This case seems to be unique. Similar cases of preaxial polydactyly with or without a defect of the tibia and with or without an analogous anomaly of the upper extremities (duplication and hyperphalangy of the thumb) taken from the literature are classified. 4 different types which could be due to dominant genes are proposed.
Auszugsweise vorgetragen anläßlich der Tagung der Gesellschaft für Anthropologie und Humangenetik, Göttingen 1971. 相似文献