Prenatal diagnosis of the split hand anomaly: how early is early?

Haratz-Rubinstein, N.; Yeh, Ming‐Neng; Timor‐Tritsch, I. E.; Monteagudo, Ana

doi:10.1046/j.1469-0705.1996.08010057.x

Cited by 9 publications

(7 citation statements)

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“…Haratz-Rubinstein et al,[10] described a case of prenatal diagnosis of SHFM at 18 weeks of pregnancy. In this case, the fetus presented with both hands with limited mobility than expected and the thumbs were fixed in an abducted position.…”

Section: Discussionmentioning

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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Section: Discussionmentioning

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 incidence is about 1 in 90 000 births 3 . The anomaly results from an abnormal development of the hand and/or foot plates during the seventh week of gestation 4 . The malformation can be isolated, typically inherited in an autosomal dominant pattern with variable expression, or as part of a syndrome.…”

Section: Discussionmentioning

confidence: 99%

Split hand and foot malformation: ultrasound detection in the first trimester

Lapaire

Schiesser

Peukert

et al. 2002

Ultrasound in Obstet & Gyne

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“…This flexed position of the fetal fingers at 20 weeks' gestational age makes it more difficult to determine the exact number and posture position. However, it should be taken into consideration that isolated syndactyly still remains difficult to diagnose by ultrasonography [4].…”

Section: Discussionmentioning

confidence: 99%

“…The earliest report of prenatal sonographic diagnosis of SHFM in the literature is 14 weeks [3], but other authors describe diagnostic problems until a gestational age of 18 weeks [4]. In families with a recurrence risk of 50%, first trimester sonographic diagnosis might be an improvement in prenatal care.…”

Section: Introductionmentioning

confidence: 99%

First Trimester Diagnosis of Split Hand/Foot by Transvaginal Ultrasound

Haak

Cobben²,

Vugt³

2001

Fetal Diagn Ther

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Objective/Method: First trimester high-frequency transvaginal ultrasonographic examination was performed in a 26-year-old gravida 2, para 1, diagnosed with tetramelic split hands and feet. The couple was informed about the probable 50% recurrence risk of this anomaly. Results: At 12 weeks’ gestation, high-frequency transvaginal ultrasound examination revealed a fetus with biometry consistent with gestational age. Both hands appeared to have a single digit at the ulnar side. On the site of the metacarpal bones, only three bones could be visualized. Both feet showed two digits, with a typical ‘split-foot’ appearance. Nuchal translucency thickness measured 1.0 mm. No additional abnormalities could be found. The child was born in good condition with the described split hand/foot malformation (SHFM). Conclusion: This case report demonstrates prenatal sonographic diagnosis of SHFM in a first trimester fetus. In first trimester there can be several technical advantages and it shortens the period of uncertainty of the parents. Secondly it provides the option of early surgical termination of the pregnancy instead of induction of labour.

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Prenatal diagnosis of the split hand anomaly: how early is early?

Cited by 9 publications

References 0 publications

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

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

Split hand and foot malformation: ultrasound detection in the first trimester

First Trimester Diagnosis of Split Hand/Foot by Transvaginal Ultrasound

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