Case of complex craniofacial anomalies, bilateral nasal proboscides, palatal pituitary, upper limbs reduction, and amnion rupture sequence: Disorganization phenotype?

We report a case of a dizygotic twin with complex abnormalities of head, bo dy, and limbs. The anomalies include the following: lateral and midline cle ft upper lip, ectopic palatal pituitary, natal teeth, bilateral nasal proba scides with an absent nose, left microphthalmia with conjunctival-lined cys t, right ocular dysgenesis, bilateral retinal dysplasia, platybasia with sk ull asymmetry, hydrocephalus secondary to aqueductal atresia, brain hemisph eric asymmetry with a parietal-occipital cortical flap, agenesis of posteri or corpus callosum, absence of the olfactory nerves and left anterior cereb ral artery, leptomeningeal and intraventricular heterotopias, right radial longitudinal terminal meromelia with constriction rings of fingers, partial syndactyly of the third and fourth left fingers, dorsiflexed great toes an d pes equinovarus bilaterally, and multiple skin tags with a sacral appenda ge. Additionally, this twin's placental disc and extraplacental membranes w ere devoid of amnion. We regard these anomalies as a possible expression of the human homologue of the disorganization phenotype or another gene mutat ion. Nevertheless, an abnormality of blastogenesis with early damage to org anizing tissues of the frontonasal region and limbs, or a vascular disrupti on, cannot be excluded. Early amnion rupture sequence (possible extraamniot ic pregnancy with amniotic bands, limb reduction defects with Streeter band s, and multiple skin tags tapering into amniotic bands) was also present in this case, and may have acted as a contributing factor.