Constricting Bands, Congenital

Temtamy and McKusick (1978) could find no evidence of a clear or simple genetic basis.

After the work of Streeter (1930), the causative role of amniotic bands was discounted and the malformations, both the bands and the associated absence deformities, were thought to result from tissue necrosis, probably on a vascular basis. However, the work of Torpin (1968) made a modified form of the amniotic band theory plausible. A considerable body of observations indicated that rupture of the amnion and constriction of members which are displaced through holes in the amnion are involved. Amputated parts have been recovered in some instances. Gellis (1977) described a family in which both the father and 1 son had a ring constriction of the third left finger and a second family in which the fourth right finger was affected in father and son. In all 4 instances the constriction involved the terminal phalanx and there were no amputations. In the discussion of the report by Gellis (1977), W. Lenz pointed out that a pedunculated rudimentary thumb attached to the hand by a thread-like strand of tissue may occur in the Fanconi syndrome (227650) and that type B brachydactyly (113000) may resemble constriction band disease.

Keller et al. (1978) discussed the ADAM complex (amniotic deformity, adhesions, mutilations), a designation given by John Opitz to the association of constriction band with cleft lip and palate and other facial malformations. They observed the complex in 2 boys related as first cousins once removed. One of the boys showed, in addition to cleft lip-palate and digital amputation, curious linear constriction about the forehead and temples. In general they supported the nonmendelian nature of constriction bands and of the ADAM complex. Familial instances of involvement of the limbs have been reported only rarely (Jones et al., 1974). Etches et al. (1982) reported congenital amputations of the toes in a male infant and his mother. Lubinsky et al. (1983) and Lubinsky (1983) reported 2 families. In 1, the proband had a classic amputation of the right leg at midcalf, with recovery of the amputated part; her cousin had typical multiple constriction bands. In the second family, the proband had anencephaly with documented bands, a maternal uncle had bilateral congenital finger amputations, and a more remote relative had a child with anencephaly and cleft palate possibly secondary to bands. Donnenfeld et al. (1985) described the amniotic band sequence in 1 of DZ twins. Multiple facial clefts were present in the affected twin. Pauli et al. (1985) presented 3 families, each of which had 2 cases of terminal transverse defects of the arm. The illustrations were highly suggestive of amputation by constriction bands. In 1 instance father and son were affected; in the other 2 families, the case other than the proband was a first cousin once removed and a first cousin thrice removed. Pauli et al. (1985) concluded that whereas mendelism was not tenable, a genetic contribution rather than chance occurrence was likely.

Bamforth (1992) reviewed recently published reports of 54 subjects with the amniotic band disruption sequence which he referred to as 'limb and/or body wall defect' (acronym LBWD). Focusing on the internal anomalies which most frequently involve the head, lungs, heart, diaphragm, kidneys, and gonads, he concluded that the damage occurs in a definable time period, probably prior to 26 days postconception and before the establishment of effective embryonic circulation. He further contended that most defects are explicable in terms of interference with neuropore closure, malmigration of cephalic neural crest tissue, and damage to the mesonephros consistent with local interference of the graded expression of organizational genes.

Van Allen et al. (1992) presented evidence that vascular disruption from death of a cotwin (1 case) or from in utero embolic infarcts (1 case) can cause terminal limb reduction defects and possibly cleft lip and palate, and ring constrictions similar to those of the amniotic band disruption sequence in the absence of an abnormal amnion.

Taub et al. (2003) described 3 successive cases of amniotic band sequence observed within a 1-year period with typical cleft lip and palate and constriction bands of the limbs.

Orioli et al. (2003) studied a large Latin American database of live births and still births and found a prevalence rate of ADAM sequence of approximately 1:11,200 births from 1982 to 1998. Half of the cases identified had reduction or ring constriction deformities of fingers or toes only. Other features that were significantly associated with the above lesions included acrania, cephalocele, facial clefts, eyelid colobomas, and celosomia. There was an excess of cases in the high-altitude Andes population and among the stillborn and neonatal deaths. ADAM sequence was seen more frequently in first-born children and in those whose mothers had a first trimester history of febrile illness, medication use, or vaginal bleeding.

Maas et al. (2009) described 2 women with Goltz-Gorlin syndrome, or focal dermal hypoplasia (FDH; 305600), who had 1 and 2 female fetuses, respectively, with a phenotype resembling either the limb-body wall complex or the pentalogy of Cantrell (see 313850). Maas et al. (2009) suggested that some cases with the latter diagnoses may in fact be severely affected fetuses with Goltz-Gorlin syndrome.

Isidor et al. (2009) reported 4 patients with severe limb anomalies which were originally diagnosed as amniotic band sequence, but who also had congenital skin pedicles which were considered to be more like the 'disorganization' phenotype (223200). Isidor et al. (2009) suggested that hamartomatous skin pedicles and 'amniotic band sequence plus' (ABS plus) are different phenotypes resembling mouse disorganization ('disorganization-like'). Purandare et al. (2009) independently suggested that amniotic band sequence with other anomalies, particularly skin appendages, is suggestive of a disorganization homolog.