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, body, and limbs. The anomalies include the following: lateral and midline cleft upper lip, ectopic palatal pituitary, natal teeth, bilateral nasal proboscides with an absent nose, left microphthalmia with conjunctival-lined cyst, right ocular dysgenesis, bilateral retinal dysplasia, platybasia with skull asymmetry, hydrocephalus secondary to aqueductal atresia, brain hemispheric asymmetry with a parietal-occipital cortical flap, agenesis of posterior corpus callosum, absence of the olfactory nerves and left anterior cerebral 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 and pes equinovarus bilaterally, and multiple skin tags with a sacral appendage. Additionally, this twin's placental disc and extraplacental membranes were devoid of amnion. We regard these anomalies as a possible expression of the human homologue of the disorganization phenotype or another gene mutation. Nevertheless, an abnormality of blastogenesis with early damage to organizing tissues of the frontonasal region and limbs, or a vascular disruption, cannot be excluded. Early amnion rupture sequence (possible extraamniotic pregnancy with amniotic bands, limb reduction defects with Streeter bands, and multiple skin tags tapering into amniotic bands) was also present in this case, and may have acted as a contributing factor.
Stanek
J
J
Department of Pathology and Laboratory Medicine, University of Cincinnati College of Medicine, OH 45267-0529, USA.
de Courten-Myers
G
G
Spaulding
A G
AG
Strub
W
W
Hopkin
R J
RJ
D000015:Abnormalities, Multiple / Q000209:etiology / Q000473:pathology*; D000328:Adult; D000652:Amniotic Band Syndrome; D019465:Craniofacial Abnormalities / Q000209:etiology / Q000473:pathology*; D004480:Ectromelia / Q000209:etiology / Q000473:pathology*; D005124:Eye Abnormalities / Q000473:pathology; D005260:Female; D005322:Premature Rupture of Fetal Membranes / Q000150:complications / Q000473:pathology*; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D009666:Nose / Q000002:abnormalities*; D010902:Pituitary Gland / Q000002:abnormalities*; D011247:Pregnancy; D014429:Twins, Dizygotic