The cyclops and the mermaid: an epidemiological study of two types of rare malformation.

Källén, Bëngt; Castilla, Eduardo E.; Lancaster, Paul; Mutchinick, Osvaldo M.; Knudsen, Lisbeth B.; Ml, Martínez-Frías; Mastroiacovo, Pierpaolo; Robert, Elisabeth

doi:10.1136/jmg.29.1.30

Cited by 95 publications

(62 citation statements)

References 10 publications

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“…4 It is described as being three times more common in males, having a higher incidence in identical twins, and having a slight increase in risk with maternal age of less than 20 years and older than 40 years. 4,5 This syndrome was once thought to be uniformly fatal; however, since 1989, there have been four reports of children surviving with sirenomelia.…”

Section: Discussionmentioning

confidence: 99%

Sirenomelia with an Angiomatous Lumbosacral Myelocystocele in a Full-term Infant

et al. 2004

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Section: Discussionmentioning

confidence: 99%

Sirenomelia with an Angiomatous Lumbosacral Myelocystocele in a Full-term Infant

et al. 2004

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“…The various forms based on the extent of lower limb abnormalities and limb fusion have been well described and classified by Duhamel [2]. Frequency varies from 1.2 to 4.2 cases for 100,000 births [2,3,4,5]. The etiology of this malformation remains unknown: the pathogenesis may be neural tube distention, cloacal malformation, or caudal somite destruction [1].…”

Section: Discussionmentioning

confidence: 99%

“…Malformation of nearly every system has been described in the Mermaid syndrome, including urogenital, musculoskeletal, anorectal, vascular, cardiopulmonary, and central nervous systems [1,4]. Among these frequently associated abnormalities, renal dysplasia and a single umbilical artery are almost invariably described.…”

Section: Discussionmentioning

confidence: 99%

Mermaid syndrome: virtually no hope for survival

et al. 2004

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Sirenomelia, also called the mermaid syndrome is a severe malformation involving multiple organs and characterized by partially or completely developed lower extremities fused by the skin. The birth of a ''mermaid'' is very rare (1.2-4.2 cases for 100,000 births); most are stillborn, or die at or shortly after birth. The case of a living female neonate with dipodic simelia (fusion of well-developed legs) is presented. No prenatal diagnosis was made and the newborn had an uneventful neonatal course following Cesarean section delivery. The complex and striking malformation was obvious at birth and further evaluation revealed very poorly functioning kidneys, associated with abnormal anorectum, urogenital tract, and external genitalia, as well as a pelvic malformation. Supportive care was applied because of the poor prognosis and the child died at 7 weeks of age, due to renal failure.

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“…It is a condition which is characterised by fused lower limbs, genitourinary abnormalities, imperforate anus and a single umbilical artery [1]. It has an incidence of about 1:1,00,000 births [2]. Male to female ratio is 2.7:1 [3].…”

Section: Introductionmentioning

confidence: 99%

Sirenomelia: A Case Report

Sharma¹,

Singh²

2017

IJAR

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Sirenomelia or Mermaid syndrome is a rare congenital malformation characterised by fused lower limbs, genitourinary abnormalities, imperforate anus and a single umbilical artery. Its incidence is about 1:1,00,000 births. This is a case of sirenomelia which was detected in a fetus of about 35 wks. The fetus was delivered by emergency Caesarean section with poor Apgar score and died soon after birth. The fetus had fused lower limbs, a single foot and four digits. The urinary system and adrenal glands were absent. The gonads couldn't be detected. The terminal part of the colon was blind-ending and distended with meconium. The abdominal aorta below the umbilical artery was rudimentary and gave off two iliac arteries. The right iliac artery continued into the thigh. The left iliac artery was small. There was right pulmonary aplasia and left pulmonary hypoplasia. Radiograph of the fetus revealed partially fused femurs, separate tibiae, but no fibulae. There were only 3 metatarsals, each of them having a single phalanx. Sirenomelia cases usually die because of pulmonary hypoplasia, aplasia or renal agenesis. Though there are a few theories regarding aetiopathogenesis, there is still no such one which can fully explain all the features. The sirenomelia cases can be detected by ultrasound antenatally. Such babies cause difficult labor and are usually delivered by Caesarean section but death usually occurs soon after birth. Once the diagnosis is made during early pregnancy, termination of pregnancy is advisable.

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The cyclops and the mermaid: an epidemiological study of two types of rare malformation.

Cited by 95 publications

References 10 publications

Sirenomelia with an Angiomatous Lumbosacral Myelocystocele in a Full-term Infant

Sirenomelia with an Angiomatous Lumbosacral Myelocystocele in a Full-term Infant

Mermaid syndrome: virtually no hope for survival

Sirenomelia: A Case Report

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