Prenatally Diagnosed Ectrodactyly at 16 Weeks’ Gestation by 2- and 3-Dimensional Ultrasonography

Koo, Bon Sang; Baek, Seung Eun; Kim, Mi Ryung; Joo, Won Duk; Yoo, Hana

doi:10.1159/000151331

Cited by 5 publications

(6 citation statements)

References 24 publications

(12 reference statements)

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“…Early diagnosis is also important in pregnancies in which the families elect to carry the fetuses to term, allowing delivery planning for associated anomalies that may require special care as well as providing the families time to prepare psychologically. Our cases were all identified in the second trimester, as were several other cases reported 4 , 8 . We suggest that first‐trimester screening for SHFMs should be attempted in families at risk for this disease as well as in fetuses with associated anomalies.…”

Section: Discussionsupporting

confidence: 55%

“…The differential diagnosis of an SHFM includes brachydactyly, oligodactyly, and clinodactyly, which have hypoplastic middle or distal phalanges, hypoplastic/absent terminal phalanges, symphalangism, mild syndactyly, and deformed thumbs and big toes 4 , 6 , 7 , 10 . These minor deformities can be difficult to detect by prenatal sonography.…”

Section: Discussionmentioning

confidence: 99%

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Prenatally Diagnosed Fetal Split‐Hand/Foot Malformations Often Accompany a Spectrum of Anomalies

Lu¹,

Vaidya²,

Meng³

et al. 2014

J of Ultrasound Medicine

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plit-hand/foot malformations (SHFMs) span a wide spectrum of limb defects ranging from minor anomalies of the fingers to a lobster claw deformity. As a result, authors in the genetics and surgical literature use the term SHFM interchangeably with ectrodactyly, cleft hand, partial terminal aphalangia, oligodactyly, crab claw malformation, and lobster claw anomaly/ malformation. In this article, we use SHFM to describe the full spectrum of split-hand/foot anomalies as described by the Human Genome nomenclature in 1994, 1 including ectrodactyly and syndactyly with obvious median clefts of the hands and feet, due to aplasia or hypoplasia, or both, of the phalanges, metacarpals, and metatarsals. The purpose of this series was to identify cases that appeared on sonography to be splithand/foot malformations (SHFMs) in fetuses and correlate the sonographic findings, including 2-dimensional (2D) and 3-dimensional (3D) sonography, to outcomes. A retrospective review was conducted of sonographic studies from 2002 to 2012 at 2 fetal care centers. Data were collected with respect to the morphologic characteristics of splithand/foot abnormalities, the utility of 3D sonography, associated anatomic abnormalities, family histories, gestational ages at diagnosis, fetal outcomes, karyotype, and autopsy results. Ten cases were identified with gestational ages ranging from 15 to 29 weeks. Three-dimensional sonography was helpful in defining anatomy in 7 of 9 cases in which it was performed. Bilateral SHFMs were found in 7 cases (3 cases involving both hands and feet, 2 cases isolated to hands, and 2 cases isolated to feet), whereas 3 cases showed unilateral split-hand malformations. Associated anatomic anomalies were present in 6 cases, and 4 of these had recognized syndromes, including 2 with abnormal karyotypes, specifically, del(22q11) and del(7q31). Two cases occurred in the context of a positive family history of SHFM. Three cases were delivered at term, and 7 cases were electively terminated. In conclusion, SHFMs often occur with a broad range of chromosomal abnormalities, single-gene disorders, and other congenital anomalies. Some apparent SHFMs turn out to be other limb anomalies, such as complex syndactyly. Prenatal screening using 2D sonography can identify SHFMs, and 3D sonography often further clarifies them.

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Section: Discussionsupporting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

Prenatally Diagnosed Fetal Split‐Hand/Foot Malformations Often Accompany a Spectrum of Anomalies

Lu¹,

Vaidya²,

Meng³

et al. 2014

J of Ultrasound Medicine

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“…Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks' gestation, have been reported [6, 9, 10]. One fetus presented with increased nuchal fold and abnormal hands with oligodactyly.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

Lévy

Jouannic

Saada

et al. 2013

Case Reports in Genetics

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Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks' gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy.

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“…[35] The 3DUS in the rendering mode has been used to better define the malformations, this mode is better to explain the malformations to the parents. There are evidences of benefits of 3DUS in isolated cases of ectrodactyly,[7] however there is only one image based report related to the EEC syndrome in the literaure. [8] Allen and Maestri[8] described a case of EEC syndrome, similar to ours, diagnosed by 2DUS on the 17 th week of gestation in a high-risk pregnant woman.…”

Section: Discussionmentioning

confidence: 99%

“…[4] The prenatal diagnosis is usually confirmed by two-dimensional ultrasonography (2DUS), that demonstrates the classic extremity malformations, such as the lobster-claw hands[5] and face (cleft lip and/or palate), frequently associated with urinary tract malformations[6] The three-dimensional ultrasonography (3DUS) have been used to analyze the ectrodactyly cases[7] nonetheless, the classic form of EEC syndrome has been reported only once in literature. [8]…”

Section: Introductionmentioning

confidence: 99%

Prenatal Diagnosis of EEC Syndrome with “Lobster Claw” Anomaly by 3D Ultrasound

Rios

Júnior

Caetano

et al. 2012

Journal of Clinical Imaging Science

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The EEC syndrome is a genetic anomaly characterized by the triad: ectodermal dysplasia (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations) and cleft lip and/or palate; these malformations can be seen together or in isolation. The prenatal diagnosis can be made by two-dimensional ultrasonography (2DUS) that identifies the facial and/or limb anomalies, most characteristic being the “lobster-claw” hands. The three-dimensional ultrasonography (3DUS) provides a better analysis of the malformations than the 2DUS. A 25-year-old primigravida, had her first transvaginal ultrasonography that showed an unique fetus with crow-rump length of 47 mm with poorly defined hands and feet,. She was suspected of having sporadic form of EEC syndrome. The 2DUS performed at 19 weeks confirmed the EEC syndrome, showing a fetus with lobster-claw hands (absence of the 2nd and 3rd fingers), left foot with the absence of the 3rd toe and the right foot with syndactyly, and presence of cleft lip/palate. The 3DUS defined the anomalies much better than 2DUS including the lobster-claw hands.

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Prenatally Diagnosed Ectrodactyly at 16 Weeks’ Gestation by 2- and 3-Dimensional Ultrasonography

Cited by 5 publications

References 24 publications

Prenatally Diagnosed Fetal Split‐Hand/Foot Malformations Often Accompany a Spectrum of Anomalies

Prenatally Diagnosed Fetal Split‐Hand/Foot Malformations Often Accompany a Spectrum of Anomalies

Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

Prenatal Diagnosis of EEC Syndrome with “Lobster Claw” Anomaly by 3D Ultrasound

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