Binder phenotype: associated findings and etiologic mechanisms.

Binder phenotype (BP), or maxillonasal dysostosis, consists of 6 characteristics: arhinoid face, abnormal position of nasal bones, intermaxillary hypoplasia/malocclusion, reduced/absent anterior nasal spine, atrophy of nasal mucosa, and absence of frontal sinus. The purposes of this study were (1) to review the characteristic facial findings, other malformations, and diagnoses in 8 patients with BP; (2) to compare these patients to those in the literature; and (3) to discuss developmental mechanisms, including genetic and environmental factors, involved in this facial defect. An initial 24 cases of BP were identified from the Iowa Registry of Congenital & Inherited Disorders during the period of 1998 to 2008. Chromosome analysis performed in all 24 cases revealed the following: trisomy 21, trisomy 18, and mosaic trisomy 18. Of the 24 patients, 8 met the specific diagnostic characteristics of BP. All 8 patients were evaluated in the genetics clinic at University of Iowa Children's Hospital, having diagnoses of vitamin K epoxide reductase deficiency, Xp22.3 deletion with chondrodysplasia punctata, Stickler syndrome, fetal warfarin syndrome, Robinow syndrome, and unknown etiology. This study, unlike those in the literature, ascertained cases through a population-based active surveillance registry and therefore may better represent the incidence of BP (∼1 per 18,000). Most cases were sporadic with a recognizable pattern of malformation, highlighting that chromosomal, genetic, and exogenous factors may cause BP. Of 8 cases remaining after exclusion of chromosome syndromes, 3 cases had in common the involvement of the vitamin K-dependent metabolic pathway, which likely represents a significant pathogenetic mechanism of BP. Clinical characterization of BP, as in these cases, may allow further understanding of other causative developmental mechanisms.

Brachytelephalangic chondrodysplasia punctata.

A case is reported here of a boy with brachytelephalangic chondrodysplasia punctata. This is the first case of this disorder reported in the Australian literature.

Chondrodysplasia punctata: a case report.

Chondrodysplasia Punctata is a rare condition in which there are numerous punctate areas of calcification in the epiphysis. The disease involves not only skeletal but also the cardiovascular, cutaneous, ocular and central nervous system. We present a newborn case with clinical as well as radiographic findings similar to Chondrodysplasia Punctata.

[Chondrodysplasia punctata associated with Down's syndrome. Presentation of a case and review of the literature]. / Condrodisplasia punctata asociada a síndrome de Down. Presentación de un caso y revisión de la literatura.

A case of chromosomic aberration and chondrodysplasia punctata is presented. Nine similar have been previously reported being this case first described in Spain. Hypothesis arouse from these observations suggest that they are different entities but also permit to include bone alterations among chromosomic aberration signs.

Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.

Complete ascertainment of lethal neonatal short-limb chondrodysplasias was attempted in the West of Scotland for the period 1970-1983. Forty-three cases were identified, representing a minimum incidence of 1 in 8,900. The differential diagnosis included 11 well-delineated skeletal dysplasias, one case of warfarin embryopathy, and one apparently new condition with presumed autosomal recessive inheritance that has radiographic similarities to those of thanatophoric dysplasia (TD). In this series TD had an incidence of 1 in 42,221, which is consistent with new dominant mutation at a rate of 11.8 +/- 4.1 X 10(-6) mutations per gene per generation. Ultrasonic measurement of fetal long bone length was performed in eight subsequent pregnancies at risk. Five unaffected fetuses were predicted correctly and three affected fetuses were detected during the second trimester (one with rhizomelic chondrodysplasia punctata-second trimester prenatal diagnosis not previously reported; one with achondrogenesis type II; and one with the new lethal condition).