Cyclopia with proboscis: A rare congenital anomaly

Kunwar, Asma; Shrestha, Suraj; Paudyal, Pooja; Rawal, Suniti

doi:10.1002/ccr3.4466

Cited by 3 publications

(22 citation statements)

References 18 publications

(33 reference statements)

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“…Nevertheless, according to recent studies, there is a balanced sex ratio among fetuses identified prenatally during the gestational period ranging from 16 to 36 weeks suggesting that there is no significant disparity in the rate of fetal loss between males and females at this advanced stage of pregnancy 12 . The etiology of this condition is still unknown exactly 1,2,7,9 . Multiple heterogeneous risk factors are related.…”

Section: Discussionmentioning

confidence: 99%

“…In cases of lobar HPE, children can survive for several years with neurological and mental challenges. Both alobar and semi‐lobar HPE have been associated with the worst prognosis 2 and are not compatible with life 2,4,7 . Generally, the result will either be a miscarriage or a stillborn, and even if babies are born alive, they only survive a few hours after birth 2,3,6,7 .…”

Section: Discussionmentioning

confidence: 99%

“…The incidence is 1.05 per 100,000 births, including stillbirth 1 with a tendency to occur in females 8 . Clinically, there are typical craniofacial features, including a single or imperfectly cleft eye in one orbit, nasal agenesis or proboscis, which is a nonfunctional nose located above the central orbit and that is known as Rhinocephaly 1–3,6,9,10 . Furthermore, extra‐cranial characteristics are also presented along with Cyclopia such as polydactyly, renal dysplasia, Omphalacele 1,2,6 and cardiac defects such as ventricle septum defect (VSD) 10 .…”

Section: Introductionmentioning

confidence: 99%

“…Cyclopia (synophthalmia) is an uncommon fatal congenital abnormality 1–3 . It is the most severe case of holoprosencephaly (HPE) 1,3–7 .…”

Section: Introductionmentioning

confidence: 99%

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A male fetus with cyclopia was discovered after miscarriage: A rare case report from Syria

Dakkak,

Mansour,

Jarbouh

et al. 2024

Clinical Case Reports

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Key Clinical MessageThis case of alobar holoprosencephaly and cyclopia emphasizes the value of prenatal check‐ups, particularly in low‐income countries. Early ultrasound diagnosis leads to early gestational termination, preventing psychological trauma for the parents.AbstractAlobar holoprosencephaly is a rare‐occurrence malformation with a bad prognosis linked to cyclopia, the most severe cranial feature. Prenatal examinations are essential for identifying these deformities and preventing parental mental health damage.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…Cyclopia (synophthalmia) is an uncommon fatal congenital abnormality 1–3 . It is the most severe case of holoprosencephaly (HPE) 1,3–7 .…”

Section: Introductionmentioning

confidence: 99%

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A male fetus with cyclopia was discovered after miscarriage: A rare case report from Syria

Dakkak,

Mansour,

Jarbouh

et al. 2024

Clinical Case Reports

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“…Cyclopia can be diagnosed using ultrasonography while the fetus is growing inside the uterus. [8] . This congenital disorder occurs between the third and fourth weeks of pregnancy, and conducting medical ultrasound after this time can usually show obvious signs of cyclopia or other forms of holoprosencephaly.…”

Section: Discussionmentioning

confidence: 99%

Cyclopia baby: Congenital lethal malformation: Rare case report

Bouab

Kiram²,

Jalal³

et al. 2022

International Journal of Surgery Case Reports

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Holoprosencephaly

Huisman,

Huisman

2024

Newborn

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Holoprosencephaly (HPE) is a complex malformation of the forebrain resulting from failed or incomplete division of the forebrain during the embryonic period. It is the most frequently seen developmental abnormality of the forebrain in humans; the incidence is nearly 1 of every 250 human embryos. However, most of these embryos do not survive and are lost to miscarriage. At birth, the prevalence is 1 in 8,000-10,000 live births and stillbirths. In HPE, the cleavage of the forebrain (prosencephalon) into the right and left hemispheres, deep brain structures, and the olfactory and optic bulbs and tracts remains incomplete. These central nervous system (CNS) defects develop during the first few 2-3 weeks of the fetal period. The etiopathogenesis is unclear, although both syndromic and isolated HPE can be heritable. The condition involves multiple systems, including the central nervous system, eyes, hearing, olfactory, gastrointestinal system, and genital tracts can be most severely affected. No specific treatment is known. Careful clinical and genetic evaluation is necessary for symptomatic management and for counseling families. In this article, we present our own clinical and imaging experience and combine it with an extensive search in the databases PubMed, EMBASE, and Scopus. To avoid bias, keywords were identified from discussions in our own group and from PubMed's Medical Subject Heading (MeSH) thesaurus.

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Cyclopia with proboscis: A rare congenital anomaly

Abstract: This is an open access article under the terms of the Creat ive Commo ns Attri bution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 3 publications

References 18 publications

A male fetus with cyclopia was discovered after miscarriage: A rare case report from Syria

A male fetus with cyclopia was discovered after miscarriage: A rare case report from Syria

Cyclopia baby: Congenital lethal malformation: Rare case report

Holoprosencephaly

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