Brachial Amelia, Cleft Lip, And Holoprosencephaly

Description

Brachial amelia, cleft lip, and holoprosencephaly (ACLH) is a severe multiple congenital anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects consistent with holoprosencephaly. Although the disorder is rarely reported, the features are consistent enough to constitute a distinct entity (summary by Kariminejad et al., 2009).

Clinical Features

An association of holoprosencephaly, facial clefting, and bilateral amelia of the upper limbs was reported by Yim and Ebbin (1982) and Thomas and Donnai (1994) in 2 fetuses. Froster et al. (1996) described a female fetus with large anterior encephalocele, a cyst replacing the right eye, bilateral cleft lip and palate, bilateral brachial amelia, shortening of the left femur, defects of both fibulae, oligodactyly of feet (2 toes on the left and 3 toes on the right), scoliosis, omphalocele, ventricular septal defect, and bifid left ureter. Froster et al. (1996) suggested that the overlap of malformations in 3 sporadic cases may represent a distinct syndrome.

Pierri et al. (2000) reported a male with a similar pattern of defects. Their patient had bilateral upper limb amelia, cleft lip and palate, dorsal kyphoscoliosis, bilateral hip dislocation, syndactyly of the second and third toes, bifid uvula, bilateral talipes, and bilateral renal hypoplasia. The patient had no evidence of forebrain defects by CT scan, and psychomotor development was apparently normal. Kariminejad et al. (2009) concluded that the patient reported by Pierri et al. (2000) should not be included in this series of patients because there was no evidence of forebrain defects.

Kariminejad et al. (2009) reported a male fetus with bilateral brachial amelia, low-set ears, cleft lip, and brain abnormalities, including smooth brain, a single ventricle, and absence of the corpus callosum, septum pellucidum, and basal ganglia, consistent with holoprosencephaly. Lower limbs and genitalia were normal. The pregnancy was terminated at 22 weeks due to multiple congenital anomalies detected during ultrasound. Chromosomal banding karyotype was normal. A first pregnancy had resulted in an anencephalic stillborn fetus. The parents were unrelated.