ULTRASOUND IN ECTRODACTYLY

The split hand and foot malformation (SHFM) is characterized by:

• Syndactyly.
• Median cleft of the hands or feet:
• V-shaped cleft (autosomal dominant pattern)
• U-shaped cleft (atypical, sporadic form).
• Aplasia and / or hypoplasia of the phalanges, metacarpals and metatarsals.

Ref	GA at Diagnosis	Ultrasound Findings	Karyotype	Outcome
1	17 weeks	Syndactyly (unilateral), lobster claw feet.	Not done	TOP
2	30 weeks	Cleft lip and palate, syndactyly of two separate groups of fingers. Abnormal feet.	46,XY	Term Delivery
3	24 weeks	Cleft lip and palate. Lobster claw deformities of hands and feet.	Not done	TOP
4	40 weeks	Polyhydramnios, chorioamniotic separation, nuchal edema, umbilical cord cyst, unilateral oligodactyly.	46,XY	TOP
4	36 weeks	Dichorionic twin pregnancy discordant for lobster claw hands and short forearms.	46,XY	Selective fetocide
5	34 weeks	Lobster claw hand, cleft lip and palate.	46,XY	Term Delivery
6	12 weeks	Split hand / foot malformation only. Autosomal dominant.	--	TOP

TOP = Termination of Pregnancy.

Monodactyly type: deficiency of central rays without a cleft. Fifth digit is always present.
Isolated claw hand – 2^nd + 3rd digits missing. Soft tissue and osseous syndactyly 4^th +5^th fingers
Lobster claw with absence of central rays dividing the hand into two parts
Isolated defect
Ectrodactyly in Cornelia de Lange syndrome Three digits. Proximally placed thumb.

REFERENCES

1. Henrion R, Oury JF, Aubry JP et.al. Prenatal diagnosis of ectrodactyly. Lancet 1980;2:319.
2. Kohler R, Sousa P, Jorge CS. Prenatal diagnosis of ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome. J Ultrasound Med 1989;8:337-339.
3. Bronshtein M, Gershoni-Baruch R. Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome. Prenat Diagn 1993;13:519-522.
4. Leung KY, MacLachlan NA, Sepulveda W. Prenatal diagnosis of ectrodactyly: the "lobster claw" anomaly. Ultrasound Obstet Gynecol 1995;6:443-446.
5. Suchet IB. Unpublished data.
6. Lapaire O, Schiesser M, Peukert R et.al. Split hand and foot malformation: ultrasound detection in the first trimester. Ultrasound Obstet Gynecol 2002;20:511-512.