Case of Complex Craniofacial Anomalies, Bilateral Nasal Proboscides, Palatal Pituitary, Upper Limbs Reduction, and Amnion Rupture Sequence: Disorganization Phenotype?
| Autor: | Abbot G. Spaulding, Jerzy Stanek, Gabrielle M. de Courten-Myers, William M. Strub, Robert J. Hopkin |
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| Rok vydání: | 2001 |
| Předmět: |
Adult
Fetal Membranes Premature Rupture Ectromelia Dizygotic twin Gestational Age Nose Biology Gene mutation Pathology and Forensic Medicine Craniofacial Abnormalities 03 medical and health sciences Dysgenesis 0302 clinical medicine Limb body wall complex Pregnancy Twins Dizygotic medicine Humans Abnormalities Multiple Eye Abnormalities 030223 otorhinolaryngology Platybasia Amnion Infant Newborn 030206 dentistry General Medicine Anatomy medicine.disease medicine.anatomical_structure Pituitary Gland Agenesis Pediatrics Perinatology and Child Health Female Amniotic Band Syndrome |
| Zdroj: | Pediatric and Developmental Pathology. 4:192-202 |
| ISSN: | 1615-5742 1093-5266 |
| DOI: | 10.1007/s100240010131 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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