We report two fetuses with Fryns syndrome including the typical facial appearance and distal limb and lung hypoplasia, but no diaphragmatic hernias. The parents were consanguineous. Characteristic in both cases were the distal limb defects with brachytelephalangism and aplasia of the distal phalanges of the first toe. Since one of the two sibs had severe lung hypoplasia without macroscopic or m...

Using gene targeting in mice, we have undertaken a systematic mutational analysis of the homeobox-containing 5' HoxD genes. In particular, we have characterized the limb defects observed in mice with independent targeted disruptions of hoxd-12 and hoxd-13. Animals defective for hoxd-12 are viable, fertile, and appear outwardly normal yet have minor autopodal defects in the forelimb which includ...

The VATER association is the sporadic non-random association of Vertebral anomalies, Anal atresia, Tracheo-oesophageal fistula with Esophageal atresia, Renal defects, and Radial limb dysplasia. Cardiac defects are common, as are other limb malformations. The present report describes a premature infant with most of the known major and minor defects of the association as well as agenesis of the b...

The development of form and morphology of cartilage in limbs from control and retinoic acid-treated DBA/2J mice were studied in organ culture. Somite number at explantation (SE) ranged from 29 to 56. All cartilage segments except digits developed in cultures of 29somite control limb-buds; digits developed well only from limb-buds of SE45 and older stages. Maternal treatment with retinoic acid s...

The formation and maintenance of the apical ectodermal ridge (AER) is critical for the outgrowth and patterning of the vertebrate limb. The induction of the AER is a complex process that relies on integrated interactions among the Fgf, Wnt, and Bmp signaling pathways that operate within the ectoderm and between the ectoderm and the mesoderm of the early limb bud. The transcription factors Sp6 a...

Genes required for limb developm ent have, in several instances, first been identified by studies of human diseases in which the limbs are affected. In humans, m utations in the transcription factor SALL4 results in Okihiro syndrome (OS), which is characterised by forelimb defects and the eye disorder, Duane anom aly. OS patients forelim b defects range from subtle thumb abnormalities to trunca...

Mouse Twist is essential for cranial neural tube, limb and somite development. [Genes Dev. 9 (1995) 686]. To identify the molecular defects disrupting limb morphogenesis, we have analysed expression of mesenchymal transcription factors involved in patterning and the cell-cell signalling cascades controlling limb bud development. These studies establish that Twist is essential for maintenance an...

In a case control study, prescription data were examined for the three months before the last menstrual period and for the first trimester of pregnancy in (a) 115 mothers of children with limb reduction defects, (b) 676 mothers of children with oral cleft, and (c) an equal number of control mothers of normal babies from the same doctor's practice for each case. In the limb reduction study, the ...

We present a patient with a 17.31 MB interstitial deletion of 6q16.3-6q22.31, who demonstrates a unique constellation of 6q- features. Among 6q- patients, he has limb reduction among the most severe reported, he is the second patient with duodenal atresia, and is the first documented case of diaphragmatic eventration.