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The oro-ocular cleft number 5 according to the Tessier classification is one of the rarest facial clefts and few cases have been reported in the literature. Although the detailed structure of rare craniofacial clefts is well established, the cause of these pathological conditions is not. There are no existing guidelines for the management of this particular kind of cleft. We describe the case of a 19-month-old girl with a complete bilateral facial cleft. We describe the surgical steps taken to achieve the primary correction of the soft tissue deformation. Embryologic development and radiological approach are discussed, as are also the psychological and social aspects of severe facial deformities.

Most facial bones, including frontal bones, are derived from neural crest cells through intramembranous ossification. Fibroblast growth factor receptor 1 (Fgfr1) plays a pivotal role in craniofacial bone development, and loss of Fgfr1 leads to cleft palate and facial cleft defects in newborn mice. However, the potential role of the Fgfr1 gene in neural crest cell-mediated craniofacial development remains unclear. To investigate the role of Fgfr1 in neural crest cells, we analyzed Wnt1-Cre;Fgfr1flox/flox mice. Our results show that specific knockout of Fgfr1 in neural crest cells induced heterotopic chondrogenesis and osteogenesis at the interface of the anterior portions of frontal bones. We observed that heterotopic bone formation continued through postnatal day 28, whereas heterotopic chondrogenesis lasted only through the embryonic period. In summary, our results indicate that loss of Fgfr1 in neural crest cells leads to heterotopic chondrogenesis and osteogenesis.

Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype-phenotype correlation seems not to be present. As it is of major importance to adequately counsel patients with EFNB1 mutations and their parents, and to improve diagnosis of new patients, more information about the phenotypic features is needed. This study included 23 patients (2 male, 21 female) with confirmed EFNB1 mutations. All patients underwent a thorough physical examination and photographs were taken. If available, radiological images were also consulted. Hypertelorism, longitudinal ridging and/or splitting of nails, a (mild) webbed neck and a clinodactyly of one or more toes were the only consistent features observed in all patients. Frequently observed phenotypic features were bifid tip of the nose (91%), columellar indentation (91%) and low implantation of breasts (90%). In comparison with anthropometric data of facial proportions, patients with CFNS had a significantly different face in multiple respects. An overview of all phenotypic features is shown. Patients with EFNB1 mutations have a clear phenotype. This study will facilitate genetic counseling of parents and patients, and contribute to the diagnostic and screening process of patients with suspected CFNS. © 2014 Macmillan Publishers Limited All rights reserved.

Cleft lip and palate (CLP) have an incidence of 1.82 in 1,000 live births [1], thus representing one of the most common congenital anomalies. In a series by Cash et al. [2], 67 % of the cases involved isolated cleft lip, 93 % involved CLP, and only 22 % involved isolated cleft palate. The prenatal detection of 553 cleft lips with or without cleft palate and 198 cleft palates by 2D ultrasound from 20 European registries was reported by Clementi et al. [3]. Prenatal diagnosis of CLP was made in 65/366 cases with an isolated malformation, 32/62 cases with chromosomal anomaly, 30/89 cases with multiple malformations, and 21/36 syndromic cases. Prenatal diagnosis of isolated cleft palate was made in only 13/198 cases. Prenatal ultrasound diagnosis of CLP in a low-risk population has proved to have a low detection rate that ranged from 9 to 100 % for cleft lip with or without cleft palate, 0–22 % for isolated cleft palate only, and 0–73 % for all types of cleft. 3Dultrasound in high-risk women (women whose fetuses were suspected or confirmed to have facial cleft by 2D ultrasound examination or who had a family history of facial cleft) yielded a detection rate of 100 % for cleft lip, 86–90 % for cleft lip with palate, and 0–88.9 % for cleft primary palate only [4]. In a recent series, Maarse et al. [5] studied 35,924 low-risk and 2,836 high-risk pregnant women undergoing ultrasound screening. Orofacial clefts were present in 62 cases, an incidence of 1:624. The distribution of clefts was as follows: 18 (29 %) cleft lips, 25 (40 %) cleft lips with cleft palate, 17 (27 %) cleft palates only, one median cleft and one atypical cleft. Cleft lip with or without cleft palate was detected prenatally in 38/43 cases, a sensitivity of 88 %, but no case of cleft palate only was detected prenatally. Offerdal et al. [6] evaluated prenatal detection by ultrasound on 101 fetuses with facial clefts in a large nonselected population (49,314 deliveries) and showed a significant statistical increase in detection rates (from 34 to 58 %) over the two 9-year periods. Isolated cleft palates amounted to 24 %, and none were detected prenatally. Different 3D ultrasound techniques have been developed to image the fetal palate. Campbell et al. [7] were first to develop the ‘‘reverse face’’ view using 3D ultrasound. The fetal lips and alveolar ridge were examined in the frontal plane, and the face was then rotated 180 on the vertical axis to examine the secondary palate. Eight cases of suspected orofacial clefting were examined. In one case with a left-sided cleft in the lips and the alveolar ridge, and with an intact hard palate, the correct diagnosis was made, but a cleft in the soft palate was missed. Platt et al. [8] have described the ‘‘flipped face’’ view that is based on the multiplanar approach and which requires specific technical expertise. After volume acquisition, the image is rotated 90 so that the cut plane is directed along a plane extending from chin to nose. The volume cut plane is then scrolled from chin to nose to examine sequentially the lower lip, mandible, and alveolar ridge; the tongue; the upper lip, maxilla, and alveolar ridge; and the hard and soft palates. In the ‘‘angle insonation’’ technique developed by Pilu and Segata [9], in order to avoid acoustic shadowing from G. Tonni (&) Department of Obstetrics and Gynecology, Prenatal Diagnostic Center, Guastalla Civil Hospital, ASL Reggio Emilia, Via Donatori di Sangue,1, 42016 Guastalla, RE, Italy e-mail: tonni.gabriele@ausl.re.it; tonnig@ausl.re.it

Congenital anterior staphyloma is a rare, complex malformation syndrome of the anterior segment. Only a few reports on associated systemic malformations have been published. We herein present a rare manifestation of congenital anterior staphyloma (CAS) combined with amniotic band disruption syndrome (ABS). Shortly after birth, a massive enlargement of the left eye was observed in a female child. Furthermore, an extensive bilateral congenital cleft lip and cleft alveolar ridge with oblique facial cleft extending into the left medial canthal region, coloboma(s) of the left eyelids, extensive adhesions between lids and eye bulb, as well as circumferential grooves, clubfeet, and terminal transverse defects in both hands and feet were present. Due to severe progression of eye bulb protrusion with thinning of the sclera, enucleation of the left eye was performed at the age of 3 years in order to prevent complications including perforation of the globe and with the aim of improving cosmetic aspects. Histopathological examination of the enucleated eye disclosed findings typical of congenital anterior staphyloma, including massive corneal staphylomatic deformation with superficial vascularization and elapsed corneoscleral margin, destruction of Bowman’s layer, absence of Descemet’s layer, corneal endothelium, and angle structures. The lens was only partially formed, and had mainly dissolved. The neural retina appeared normal. The optic nerve disc revealed a pronounced excavation. Facial clefts, lid colobomas, congenital constriction bands, and amputation of distal limbs match ABS. This malformation complex develops in early pregnancy, probably prior to 35 days post conception. This is the first report on an association of these two rare complex congenital malformations, congenital anterior staphyloma and amniotic band syndrome. The anterior staphyloma was unilateral, and related to facial clefts and lid coloboma in the area adjacent to the anterior staphyloma. Furthermore, the systemic deformities are clearly due to the amniotic bands, and the timing of the development of both complex malformations seems to be similar. All findings suggest that the presence of amniotic bands is a causative factor for all observed abnormalities including anterior staphyloma.

The aim of our study was to investigate the role of fetal magnetic resonance imaging (MRI) as a complement to ultrasound (US) in the evaluation of cleft lip and palate (CLP), whether isolated or in association with syndromic conditions.We enrolled 24 pregnant women (27 fetuses) (mean gestational age 23.7 weeks) with a level-two US diagnosis of cleft lip (CL) or CLP with or without associated central nervous system (CNS) or facial-bone anomalies. All individuals underwent a fetal MRI examination to study the facial skeleton, CNS and fetal body. For each fetus, the main anatomical facial landmarks and biometric parameters [anteroposterior diameter (APD), biparietal diameter (BPD), inferior facial angle (IFA), frontomaxillary angle (FMA), bi-orbital diameter (BOD), intraorbital diameter (IOD)] were measured.Twenty-five of 27 fetuses had a US diagnosis of CL or CLP. MRI confirmed the diagnosis in 16/25 fetuses and added information about the extent of the cleft and the degree of involvement of the anterior and posterior palate in 8/25 fetuses. MRI ruled out the diagnosis in 1/25 fetuses and identified an alteration of the parameters IFA, FMA and IOD in 6/24 fetuses.In the study of CLP fetal, MRI is able to define the degree of involvement of the posterior palate and the lateral extent of the cleft with higher diagnostic accuracy than US. Furthermore, MRI provides a complete study of the fetal head and biometric development of the facial bones, thus enabling early detection of potential syndromic conditions.

Hypoplasia of the abdominal aorta (HAA) is a rare condition that causes marked hypertension. Although multiple etiologies have been postulated for HAA, congenital structural anomalies are rarely observed except in cases associated with some hereditary syndromes. The authors describe a neonatal case with HAA complicated by multiple anomalies including colonic atresia (CA), imperforate anus, choledochal cyst, facial cleft, and brain defects. This patient showed CA in the descending colon and caliber change in the transverse colon mimicking Hirschsprung disease, both of which were thought to be caused by vascular insult to the mesentery due to HAA. Although multiple surgical corrections were successfully performed, the hypertension was uncontrollable.

A 3-month-old girl of Japanese parents presented with a left oblique facial cleft (Tessier number 4 cleft). It extended from the area lateral to the Cupid’s bow, through the cheek on the lateral side of the ala nasi, to the medial side of the lacrimal punctum of the lower eyelid. As a result, the left lower eyelid was split, resulting in marked ectropion. There was another cleft present on the medial side of the left upper eyelid. The left ala nasi was normal morphologically but was raised upwards. The cleft extended into the secondary palate. The nasal septum was preserved, and left choanal atresia was present. CT examination revealed hypoplasia of the left maxillary bone and sinus. A total of seven operations was performed during the 14-year follow-up period; the end result was satisfactory. Artificial bone (apatite ceramics) was implanted on the anterior wall of the maxilla, when the child was aged 6 years, and to the orbital floor when she was 13. CT examination (at 13 years) revealed that the artificial bone implanted at age 6 was correctly oriented and had fused to the anterior wall of the maxilla and zygoma. Resorption had been minimal.

A 9-year-old girl presented with an abnormal muscle of the upper lip, a congenital philtral deformity associated with a short columella and a bifid nose. The deformity was most clearly seen with facial expression. Congenital nasal anomalies may occur alone or in combination with clefts of the lips and face. In this case, there was no palpable facial cleft. The contribution of the medial nasal processes to the formation of the nasal septum, columella, and philtrum and the proposed embryologic errors have been well described. A three-dimensional model of the philtrum and a transverse histological section from a third trimester fetus is illustrated. The smooth muscle tissues are formed by the embryonic connective tissue. A minor malformation of unilateral skin and soft tissue between columella and philtrum may be a focal fetal dysplasia and can be considered a type of facial cleft. The patient can be classified in a morphogenetic group with a slight focal fetal dysplasia.

The etiology of Tessier no. 7 facial cleft involves embryonic developmental failure of the skeletal, soft tissue and neuromuscular structures derived from the first and the second branchial arches. The clinical expression may be highly variable, ranging from only a preauricular skin tag to macrostomia on the affected side and a cleft crossing the cheek to the ear. In this report, a case of no. 7 facial cleft accompanied by anophthalmia is presented. Although various combinations of facial cleft and anophthalmia have been reported previously, a similar case of a no. 7 facial cleft and anophthalmia has not been published previously. Although a no. 7 cleft is the least rare of the craniofacial clefts, this may in fact be the first case in which no. 7 facial cleft is accompanied by anophthalmia.

A case of myositis of both temporalis muscles in a craniofacial cleft is described. The patient was a 19-year-old male who underwent orbital translocation for hypertelorism thirteen months previously. He complained of bilateral painful temporal swellings and trismus with a high fever. Initially, antibiotic therapy seemed to be effective. At operation both temporalis muscles were slightly edematous but normal in color. No pus nor necrotic tissue was seen. A titanium plate and screws covered by the muscle on each side were removed. The postoperative course was uneventful. The histopathological diagnosis of the biopsied muscle was myositis.

An unusual case of bilateral hemifacial microsomia associated with a Tessier 2 facial cleft, macrostomia, and a columellar sinus is presented. A review of the literature suggests that no such entity has been previously reported and this was not part of a syndrome.

Connatal dacryostenosis involves obstructions of the lacrimal passages in all parts of the system as well as supernumerary structures like the connatal fistula of the lacrimal sac. Usually intervention in infants with aplasia of the puncta is not necessary. When the lacrimal passages are involved in coloboma of the lids or facial cleft, reconstruction depends on the usable tissue of the lacrimal system. Treatment of connatal mucocele consists of digital expression of the pseudo-tumor. In cases of connatal dacryostenosis due to Hasner's membrane in infants, massage of the lacrimal sac as well as application of antibiotic eye drops and detumescent nose drops is indicated. After 5 or 6 months high-pressure irrigation with the hollow probe of Bangerter is necessary. Important is the postoperative treatment with detumescent and antibiotic eye drops as well as with detumescent nose drops for 1-2 weeks. In acute inflammation, treatment of the inflammation is the first goal of therapy, which may be combined with incision of the abscess. This can be performed by transcutaneous incision as well as by endonasal intervention in cooperation with a rhinologist.

The authors report their experience with anterior encephalocele, comprising 11 congenital and 11 traumatic cases. Unlike occipital encephaloceles, anterior lesions are usually associated with normal mental development. Surgery aims to restore normal anatomy with repair of the defective dura, bone and skin. Indications, surgical methods and outcome are discussed.

WOS: A1996TV26000016 Isolated alar cleft associated with hamartoma is a very rare congenital anomaly. In this paper, this rare anomaly is presented with its clinical findings and the treatment.

Eine Restsplate beeutet ein Probem sowohl fur Den Patienten als auch fur den Kieferorthopaden. Um einige Nachteile, die durch den Knochendefekt verursach waren, zu verbessern, wurde 1977 in Oslo sekundare Knochentransplantation nach den Prinzipien vonBayne undSands [3–5] angefangen. Das Splaten spongiose Knochenspane vom Beckenkamm transplantiert. Die Patienten sind bei der Operation zwischen acht und 18 Jahre alt gewesen; das Durchschnittsalter ist 11.5 Jahre. Wir sehen, das das optimale Alter fur Osteoplastik neum bis elf Jahre zu sein scheint.

A rare case of embryonal type of rabdomyo-sarcoma of the maxillary antrum is presented. Its clinical features, pathology, genesis and treatment are outlined in short.

Fryns syndrome has a clinically distinct pattern of abnormalities which appears to be inherited as an autosomal recessive trait. In the six previously reported cases, the syndrome has been characterized by diaphragmatic hernia or eventration, hypoplasia of the distal phalanges and nails and dysmorphic facial features including fronto-nasal broadening, macrostomia, coarse fades and abnormal ears. All previously reported cases have been stillborn or have died in the neonatal period. We report two siblings with features consistant with Fryns syndrome. Previously undescribed features found in both infants Include omphalocele and imperforate or anteriorly displaced anus. Previously undescribed radiological abnormalities include broadening of the ribs and clavicles. The first case was stillborn at 27 weeks gestation. During the second pregnancy, ultrasonographic demonstration of omphalocele, facial cleft and diaphragmatic hernia, together with a raised maternal serum alpha fetoprotein allowed accurate prenatal diagnosis at 18 weeks gestation. Cytogenetic studies on both cases were normal. Recognition of this syndrome is important for obstetrical and pediatric management and for genetic counseling.