Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?

The generic term median facial dysplasia (MFD) describes a subgroup of patients with cleft lip and palate exhibiting characteristic craniofacial defects: (1) short prolabium, (2) absence of frenulum labii, (3) hypoplasia of premaxilla, (4) absent upper central and lateral incisors of the cleft side, and (5) deficient septal cartilage and nasal spine. Gross brain malformations are usually absent in MFD. The same craniofacial malformations are also described in patients with holoprosencephaly sequence (HPE-S). We report on two male patients with bilateral cleft lip and palate showing the facial findings of MFD or HPE-S. Additional congenital malformations were anal atresia in one patient and severe cardiac defect in the other. In both, HPE was excluded by brain imaging, although uncommon brain anomalies were detected consisting of multiple white-matter lesions in the one patient and unusual enlargement and tortuosity of intracerebral blood vessels in both patients. In addition to facial anomalies, the patients also had psychiatric problems typically seen in velo-cardio-facial syndrome (VCFS). Fluorescence in situ hybridization (FISH) analysis confirmed a 22q11.2 microdeletion in both.

Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients.

Oculo-facio-cardio-dental syndrome is a very rare condition. So far, only nine cases have been documented. We report on three additional female patients representing the same entity. The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, ptosis, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, cleft palate, atrial septal defect, ventricular septal defect, and skeletal anomalies. The following dental abnormalities were found: radiculomegaly, delayed dentition, oligodontia, root dilacerations (extension), and malocclusion. For the first time, fusion of teeth and hyperdontia of permanent upper teeth were seen. In addition, structural and morphological dental changes were noted. These findings expand the clinical spectrum of the syndrome.

Wolf-Hirschhorn syndrome: case report and review of the chromosomal aberrations associated with diaphragmatic defects.

A female fetus showing severe growth retardation was delivered at 31 weeks of gestation because of fetal distress. At birth, the infant showed bradycardia and no spontaneous breathing. Although high frequency oscillatory ventilation was started, severe asphyxia persisted and the infant died of respiratory insufficiency. At the autopsy, the propositus showed microcephaly, prominent glabella, broad bridge of the nose, ocular hypertelorism, poorly differentiated and low-set ears, bilateral palatoschisis, and micrognathia. Midline closure defects of the cervical spine bodies, lower jaw, and skull base were seen at postmortem radiography. An extreme hypoplasia of both lungs, a large defect of the left diaphragm with upward displacement of viscera, and multiple cortical cysts in both kidneys were seen at postmortem examination. Karyotyping revealed a chromosomal imbalance with 46, XX, del(4) (pter-->13), characterizing the Wolf-Hirschhorn syndrome. Because diaphragmatic defects can occur in association with specific recognizable patterns of human malformation careful pathologic and genetic workup of all affected infants in crucial for accurate genetic counseling.