Knowledge of congenital malformations and their causes in horses is generally sparse. Such conditions require more scientific attention to improve their diagnostics and inform prevention strategies. Here, a unique syndrome of bilateral oblique facial clefts (meloschisis), rudimentary eyes and hydrocephalus is reported in an equine foetus spontaneously aborted at gestation day 224. The cause of abortion was considered to be intrauterine death caused by umbilical cord torsions and subsequent compromised blood flow, but the aetiology of the malformation could not be determined. A detailed history, which includes exposure to a range of pharmaceutical compounds during the early stages of pregnancy, is provided and emphasizes the need for accurate recording of treatments in pregnant animals.

Oblique facial clefts are extremely rare and cause significant morbidity. Treatment of these clefts is complex and requires a fundamental understanding of cleft classification and techniques used for treatment of clefts. We describe a novel single-staged technique to repair the Tessier no. 4 soft tissue cleft and reconstruct the buccal sulcus and bilaminar lower eyelid by preserving normally excised tissue combined with standard procedures. We also present a case report demonstrating the technique in an adolescent female. The procedure incorporates turnover flaps from soft tissue preservation within the cleft, a Mustarde cheek advancement flap, an anatomical subunit lip repair, a dorsal nasal Rieger flap for ala repositioning, and a lateral nasal flag flap. The single-staged soft tissue repair eliminated the Tessier no. 4 cleft while simultaneously reconstructing the bilaminar lower eyelid and buccal lining. Our patient had no complications within the perioperative period. This novel single-staged technique for the treatment of the soft tissue Tessier no. 4 cleft not only repairs the cleft but also reconstructs the buccal sulcus and bilaminar lower eyelid with turnover flaps preserved from the normally discarded excess soft tissue within the cleft. The novel repair allows for the creation of a deeper fornix to aid with placement of an orbital prosthesis and is ideal for use in underserved or remote locations.

Johanson-Blizzard syndrome (JBS) is considered as an infrequent, but clinically easily recognizable autosomal recessive entity by the pathognomonic combination of congenital exocrine pancreatic insufficiency and hypoplastic alae nasi, in addition to other distinctive findings such as scalp defects, hypothyroidism, and rectourogenital malformations. There are few reports of patients with JBS in association with facial clefting, referring all to types 2 to 6 of Tessier's classification that can be characterized properly as oblique facial clefts (OFCs). We describe the clinical aspects in four patients with JBS and extensive OFCs. In all of them, the diagnosis of JBS was confirmed by the demonstration of homozygous or compound-heterozygous mutations in the UBR1 gene. Additionally, we review three previously reported cases of JBS with OFCs. Taking into account a number of approximately 100 individuals affected by JBS that have been published in the literature we estimate that the frequency of OFCs in JBS is between 5% and 10%. This report emphasizes that extensive OFCs may be the severe end of the spectrum of facial malformations occurring in JBS. No obvious genotype phenotype correlation could be identified within this cohort. Thus, UBR1 should be included within the list of contributory genes of OFCs, although the exact mechanism remains unknown. © 2016 Wiley Periodicals, Inc.

Oblique facial clefts are congenital craniofacial malformations affecting the paramedian line of facial structures. Correction of these defects involves bone and soft tissue reconstruction. The authors have developed a computer-aided sequential surgical procedure for oblique facial clefts, including mandibular outer cortex autografting, medial canthal ligament reduction and fixation, and fat autografting. From 2004 to 2013, 12 patients (9 women, 3 men) with oblique facial clefts were treated with the 3-step procedure in our clinic. Mean patient age at the first surgery was 18 years (range, 13-25 years). Preoperative three-dimensional surgical simulations assisted the surgeries. A retrospective review of patients' clinical, photographic, and radiographic records was performed. All patients achieved significant treatment effects and high satisfaction. The patients' self-assessed scores on a 10-point scale of deformity severity were lower after surgery (P < 0.001) and remained stable after 6 to 12 months (P = 0.069). Good repositioning of the inner canthus was achieved (P < 0.001) with no significant relapse (P = 0.096). The mean (SD) recovery of mandibular donor sites was 48.44% (16.89%) (range, 11.03%-71.33%). Grafted bone absorption was not significantly different at different recipient sites. Only minor complications occurred in 6 patients. This procedure was an effective treatment for oblique facial clefts, resulting in high satisfaction, remarkable improvements in facial symmetry, little skin scarring, acceptable bone graft resorption, and dramatic recovery of mandibular donor sites. Computer-assisted surgical simulation effectively describes characteristic skeletal deformities and provides a useful guide to surgical reconstruction.