OBJECTIVE To define the intrinsic (hypoplasia) and extrinsic (deformational) contributions to congenital nasal deformities and the potential of a carrier state for orofacial clefting. METHODS Retrospective case series. RESULTS The factors affecting 4 congenital nasal deformities are postulated after contrasting the patient's characteristics. CONCLUSIONS The spectrum of congenital nasal de...

PURPOSE To report on the clinically important differences between nasal optic hypoplasia (NOH) and glaucoma with NOH-like temporal visual field defect (VFD). METHOD Five NOH (four bilateral and one unilateral) patients, three unilateral NOH patients with glaucoma, and two glaucoma patients with NOH-like temporal VFD were clinically characterized. Superior segmental optic nerve hypoplasia was ...

Keutel syndrome is characterized by brachytelephalangism, abnormal cartilage calcification, peripheral pulmonary stenoses, and midfacial hypoplasia. We report the first case from East Asia in an 8-month-old boy who had the typical craniofacial appearance characterized by midfacial hypoplasia with a broad depressed nasal bridge (Fig. 1). The distal phalanges of fingers were thickened. Auscultati...

OBJECTIVE To analyze the outcome of transnasal endoscopic repair of choanal atresia (CA) in children without prolonged nasal stenting after surgery. DESIGN Retrospective study. SETTING Academic tertiary care children's hospital. PATIENTS Forty children aged 3 days to 15 years (mean age, 41 months) who presented with unilateral (n = 26) or bilateral (n = 14) CA and underwent surgery betwee...

We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance pattern.

We report on two sisters with an unusual form of craniosynostosis, protruding nasal spine, micrognathia, short limbs, lung hypoplasia, absent or hypoplastic gallbladder, short intestine with ileal distention, hypoplastic uterus, and intrauterine growth retardation. This combination of defects appears to be a newly recognized and probably autosomal recessive disorder.

In this report we describe two families with variable manifestations of the EEC syndrome. The findings in these families confirm that no symptom is obligatory for the diagnosis of EEC syndrome. In the absence of cleft lip/palate, EEC patients have a characteristic facial morphology with maxillary hypoplasia, short philtrum, and broad nasal tip.

OBJECTIVE To establish normal ranges for nasal bone length measurements throughout gestation and to compare measurements in two subsets of patients of different race (African-American vs. Caucasian) to determine whether a different normal range should be used in these populations. METHOD Normal nasal bone length reference ranges were generated using prenatal measurements by a standardized tec...

OBJECTIVE To investigate the mid-facial hypoplasia of fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation, by three-dimensional (3D) evaluation of the maxilla and the nasal bones. METHODS A 3D volume of the fetal head was obtained before fetal karyotyping at 11 + 0 to 13 + 6 (median 12) weeks of gestation in 80 fetuses that were subsequently found to have trisomy 21 and in 862 fetu...