Congenital isolated absence of the nasal columella: reconstruction with an internal nasal vestibular skin flap and bilateral labial mucosa flaps

Congenital aplasia of the nasal columella is a very rare anomaly. The deformity is characterized by the isolated absence of the columella from the nasal tip to the root of the philtrum, including the medial crura of the alar cartilages; surrounding structures such as the septum, nose, and upper lip are normal. To the best of our knowledge, only four such cases have been described to date. The embryopathogenesis for this uncommon disease is presently unknown. Our report describes a 14-year-old girl with congenital agenesis of the columella as an isolated anomaly. Her family history was positive for the presence of the same congenital deformity, which also affected her older brother; there was, however, no consanguinity between the parents. The columella defect was reconstructed with an internal nasal vestibular skin flap and bilateral upper labial mucosa flaps. There are many techniques available to repair columella defects, including free grafts from the ear, local flaps from the forehead, face, upper lip, and nose, distant flaps such as tube pedicle flaps, and free flaps from the ear. Each of these techniques has advantages and disadvantages. Because of this, the treatment of columella defects should be individualized.     

Report of a girl with Klippel-feil syndrome and Poland anomaly

Report of a girl with Klippel-feil syndrome and Poland anomaly: Klippel-Feil syndrome, consisting of the triad of a short neck, low posterior hairline, and limitation of neck movement, is a congenital anomaly characterized by the fusion of cervical vertebrae, Poland anomaly consists of unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. We report a 7-year-old girl with typical findings of Klippel-Feil syndrome and Poland anomaly. To the best of our knowledge a case of Klippel-Feil syndrome and Poland anomaly has not been described before, although a combination of Poland, Klippel-Feil and Moebius anomalies has been reported in the literature.     

Congenital upper auricular detachment

A rare case of unilateral congenital ear deformity has been presented. The deformity is characterized by detachment and posterior rotation of the right upper auricle in an otherwise grossly normal auricle. We believe that this deformity may be related to defective mesenchymal fusion or accretion between the auricular hillocks of the hyoid and mandibular arches. Satisfactory correction was achieved by auricular repositioning with two triangular flaps.     

Sirenomelia: A new type,Showing VACTERL Association with thomas syndrome and a review of literature

Sirenomelia or “mermaid syndrome” is a rare congenital anomaly known since antiquity. This congenital anomaly is defined as a polymalformative syndrome that associates major muscle and skeleton abnormalities (unique lower limbs) with visceral abnormalities (unilateral or bilateral renal agenesis, anomalies of the abdominal vascularisation). This phenotype, typical of sirenomelia syndrome, may be more or less severe. The pathogenic mechanisms of this syndrome are still debated and its etiology remains unknown. We report here a new type of sirenomelia that we observed in a fetus belonging to the collection of the Department of Anatomy of Reims, which led us to perform a comprehensive review of the literature on the subject: this type has never been reported and cannot be classified according to the Stocker and Heifetz classification. Moreover, this case also presents a VACTERL association with Thomas syndrome. Birth Defects Research (Part A) 97:123–132, 2013. © 2013 Wiley Periodicals, Inc.     

Deformity of Ears and Kidneys

Ten children with gross deformity of the external ear were observed. In six the facial bones were underdeveloped on the same side as the deformed ear. In all six there was a congenital abnormality of the kidney or upper urinary tract, usually on the same side as the deformed ear. In addition there were usually other associated congenital defects in each case.In the remaining four children the facial bones appeared normal, and pyelography showed no abnormality of the urinary tract. In these four children there were no other associated defects.These observations emphasize the importance of investigating the urinary tract in children with gross deformity of the external ear, especially where there is an associated underdevelopment of the facial bones.     

Studies in Osteoarthritis of the Hip: Part III,Congenital Subluxation and Osteoarthritis of the Hip

Although congenital subluxation of the hip is an important primary abnormality, upon which OA hip may later supervene, other factors may also be important in individual patients. When osteoarthritis is seen with subluxation, it probably represents congenital subluxation and not displacement of the femoral head secondary to remodelling. Osteoarthritis in these cases is usually superolateral or supermedial in type, with the major impact of the disease in the superior articular cartilage. A similar form of osteoarthritis is seen in cases where leg-length disparity exists, with or without the presence of congenital subluxation, the wear occurring on the side of the long leg. It has been suggested that bio-mechanical considerations support the contention that stress is likely to be increased in the superior area of the joint on the side of a long leg, and wear can be expected to occur here. If either anomaly may provoke the later development of OA hip, it remains to be shown which is more important when both are present in the same patient.     

Unilateral duplication of the cerebellar hemisphere and internal, middle, and external ear: a clinical case study

This article presents the unique congenital anomaly complex of ipsilateral cerebellar hemisphere duplication and internal, middle, and external ear duplication. Diagnostic techniques included a head CT scan, a three-dimensional head CT scan, and a head MRI. An aberrant notochordal split was proposed as the embryologic mechanism leading to the development of such anomalies.     

Idiopathic (primary) achalasia

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. It affects at least 1 out of 4500 women. MRKH may be isolated (type I) but it is more frequently associated with renal, vertebral, and, to a lesser extent, auditory and cardiac defects (MRKH type II or MURCS association). The first sign of MRKH syndrome is a primary amenorrhea in young women presenting otherwise with normal development of secondary sexual characteristics and normal external genitalia, with normal and functional ovaries, and karyotype 46, XX without visible chromosomal anomaly. The phenotypic manifestations of MRKH syndrome overlap with various other syndromes or associations and thus require accurate delineation. For a long time the syndrome has been considered as a sporadic anomaly, but increasing number of familial cases now support the hypothesis of a genetic cause. In familial cases, the syndrome appears to be transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity. This suggests the involvement of either mutations in a major developmental gene or a limited chromosomal imbalance. However, the etiology of MRKH syndrome still remains unclear. Treatment of vaginal aplasia, which consists in creation of a neovagina, can be offered to allow sexual intercourse. As psychological distress is very important in young women with MRKH, it is essential for the patients and their families to attend counseling before and throughout treatment.     

A new chromosome anomaly in acute lymphoblastic leukemia (ALL)

Summary A new chromosome anomaly in acute lymphoblastic leukemia (ALL) is reported. Three, possibly four, patients showed an identical karyotype anomaly, characterized by a (4;11)(q13;q22) reciprocal translocation. This anomaly has not so far been found in lymphoproliferative disorders other than ALL. Two of the patients had congenital leukemia, but the anomaly described appears to be more characteristic of ALL than of congenital leukemia, and may help the clinician in establishing the diagnosis of ALL.     

Genetics of Vesicoureteral Reflux

Vesicoureteral reflux (VUR) is the retrograde passage of urine from the bladder to the upper urinary tract. It is the most common congenital urological anomaly affecting 1-2% of children and 30-40% of patients with urinary tract infections. VUR is a major risk factor for pyelonephritic scarring and chronic renal failure in children. It is the result of a shortened intravesical ureter with an enlarged or malpositioned ureteric orifice. An ectopic embryonal ureteric budding development is implicated in the pathogenesis of VUR, which is a complex genetic developmental disorder. Many genes are involved in the ureteric budding formation and subsequently in the urinary tract and kidney development. Previous studies demonstrate an heterogeneous genetic pattern of VUR. In fact no single major locus or gene for primary VUR has been identified. It is likely that different forms of VUR with different genetic determinantes are present. Moreover genetic studies of syndromes with associated VUR have revealed several possible candidate genes involved in the pathogenesis of VUR and related urinary tract malformations. Mutations in genes essential for urinary tract morphogenesis are linked to numerous congenital syndromes, and in most of those VUR is a feature. The Authors provide an overview of the developmental processes leading to the VUR. The different genes and signaling pathways controlling the embryonal urinary tract development are analyzed. A better understanding of VUR genetic bases could improve the management of this condition in children.     

Horseshoe kidney presenting as a retroperitoneal mass. Report of a case diagnosed by fine needle aspiration cytology.

BACKGROUND: Horseshoe kidney is a renal congenital anomaly. It is the result of the fusion of either upper or lower poles of both kidneys, appearing as a horseshoe-shaped structure. This anomaly is very frequent: it can be found in about 1 of every 50-1,000 autopsies). CASE: Computed tomography performed routinely after pancreatitis in a 37-year-old female showed a retroperitoneal mass of uncertain origin. Fine needle aspiration cytology (FNAC) smears evidenced normal renal tissue. Urography confirmed the diagnosis of horseshoe kidney. CONCLUSION: This is the first reported case of horseshoe kidney diagnosed by FNAC. It demonstrates the utility of FNAC for diagnosis of retroperitoneal masses, especially if they are asymptomatic.     

The use of dysmorphology in birth defects epidemiology.

Most human teratogens have been identified by the clinical recognition of characteristic patterns of congenital anomalies among children whose mothers were exposed to a particular agent during pregnancy. Although this dysmorphologic method has been valuable, it is criticized because it is not easily amenable to statistical evaluation. Conventional birth defects epidemiological studies are designed to permit rigorous statistical assessment, but such investigations usually classify congenital anomalies without adequate consideration of their known etiological heterogeneity. It is possible to combine the best aspects of these two approaches to identifying human teratogens in a "dysmorphologic case/control study." Instead of including all available cases with a given defect, only individuals having the anomaly in the context of a multiple congenital anomaly pattern without a recognizable cause would be selected for inclusion among the case group. The frequency of exposure to the putative teratogen would be determined among these selected cases and among appropriately chosen controls; conventional statistical analysis would then be performed. Although this design reduces the size of the case group compared to a conventional case/control study, the statistical power is unchanged or increased. In addition, biological plausibility is increased by concentrating upon a group of cases that is more likely to have a teratogenic cause.     

Associated anomalies in asymmetric crying facies and 22q11 deletion

Congenital asymmetric crying facies, a minor congenital anomaly due to unilateral absence or hypoplasia of the depressor anguli oris muscle, is associated at times with major congenital anomalies. A large number of asymmetric crying facies cases with chromosome 22q11 microdeletions have presently been reported. Fluorescence in situ hybridization (FISH) analysis for 22q11 deletion was performed on 8 infants with asymmetric crying facies. Five of our patients had at least one associated systemic anomaly. Two of 5 patients had conotruncal heart disease (Cayler cardiofacial syndrome). In three of the affected infants, we failed to reveal additional congenital malformation. The 22q11 deletion was present in only one patient. This baby had congenital hypoparathyroidism, severe neonatal hypocalcaemia and tetralogy of Fallot. We suggest, a 22q11 deletion should be excluded not in all cases but in cases with Cayler cardiofacial syndrome and in ACF associated with additional congenital anomalies.     

Paper 1: The EUROCAT network--organization and processes

The European Surveillance of Congenital Anomalies (EUROCAT) is a network of population-based congenital anomaly registries in Europe, funded by the European Union, which has been in operation for more than 30 years. It currently surveys more than 1.7 million births per year, including 31% of births in the European Union, and includes almost all population-based European congenital anomaly registries as its members. EUROCAT member registries collect data, ascertained from multiple sources, on all major structural congenital and chromosomal anomalies. EUROCAT surveillance relates to three areas: prevalence, primary prevention, and prenatal screening. This article describes the history of EUROCAT and gives an overview of the current methodology and work of EUROCAT covering the database content and management, coding and classification of anomalies, core surveillance, prevalence tables, statistical monitoring. The monitoring of new developments in prenatal diagnosis, medication during pregnancy, use of folic acid, and investigation of clusters and exposures are overseen by working groups responsible for organizing research and producing regular reports. The EUROCAT Web site includes current data on prevalence rates and prenatal detection rates-an example of information useful to clinicians, public health service managers, and patients.     

Sex differences in the prevalence of congenital anomalies: a population-based study

BACKGROUND: Limited data is available concerning the sex distribution of various congenital anomaly subtypes. This study investigated sex differences in the prevalence of congenital anomalies, overall and by subtype, using high quality population‐based data from the North of England. METHODS: Information on congenital anomalies occurring among singleton pregnancies during 1985–2003 were extracted from the Northern Congenital Abnormality Survey (NorCAS). Anomalies were categorized by groups, subtypes, and syndromes according to the European Surveillance of Congenital Anomalies guidelines. Relative risks (RRs) comparing the prevalences in males to that in females were calculated for a range of congenital anomaly subtypes. RESULTS: A total of 12,795 eligible cases of congenital anomaly were identified during the study period, including 7019 (54.9%) males and 5776 (45.1%) females. Overall, male fetuses were significantly more prevalent in pregnancies affected by a congenital anomaly than female fetuses (RR, male vs. female = 1.15; 95% confidence interval [CI], 1.11–1.19), but there was significant heterogeneity between subtypes (p < 0.001). Forty‐four of 110 (40%) unique subtypes were at least 40% more prevalent in males than females, with affected subtypes occurring across all major anomaly groups. Thirteen of 110 (12%) unique subtypes were at least 40% more prevalent in females than males, but the female‐biased RR of a neural tube defect was less pronounced than previously reported (RR = 0.84; 95% CI, 0.73–0.95). CONCLUSION:This study adds to the growing evidence of sex‐specific differences in the prevalence of a wide range of congenital anomaly subtypes. Birth Defects Research (Part A), 2011. © 2011 Wiley‐Liss, Inc.     

Symphalangismus,Strabismus und Mittelohrmißbildung

Zusammenfassung Es wird über die Kombination von Symphalangismus und Mittelohrmißbildung innerhalb einer Familie berichtet. Für die Skeletfehlentwicklung und für die Mittelohrmißbildung wird der gleiche Gendefekt verantwortlich gemacht. Der kongenitale Strabismus bei den Geschwistern kann nicht sicher zu den anderen beiden Mißbildungen in Beziehung gebracht werden. Der genetische Zusammenhang einer erstmals bei Symphalangismus beschriebenen Spina bifida mit den Finger- und Zehenmißbildungen wird abgelehnt.

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Symphalangism, strabism, and anomaly of the middle ear

Summary This report describes a combination of symphalangism and anomaly of the middle ear in a family. The same genetic defect is thought to be responsible for both the deformation of the skeleton and the anomaly of the middle ear. The authors are not sure whether there is any connection between the congenital strabismus and the two other anomalies of brother and sister. The assumption of a genetic connection between spina bifida, which was described for the first time with symphalangism, and the anomalies of the fingers and toes is rejected.

     

One-stage repair of blepharophimosis

Congenital blepharophimosis is a congenital anomaly characterized by abnormalities in the area of the eyes, including bilateral ptosis, shortening of the horizontal fissure of the lid, expansion of the intercanthal distance, and epicanthus inversus. The condition is subject to autosomal-dominant heredity and is said to occur more frequently in Orientals than in Occidentals. Over the past 9 years, we have surgically treated 11 cases of congenital blepharophimosis using a procedure in which levator resection and medial canthoplasty are performed in one stage. It has been commonly believed that when levator resection and medial canthoplasty are performed at the same time, tension in the eyelid becomes too strong to achieve favorable results; therefore, the standard procedure has been to divide the operation into two stages. In all 11 cases we experienced, however, it was possible to obtain good results with a single-stage operation.     

Influence of the major histocompatibility complex (MHC) on the response to and expression of H-Y in rats

The influence of the major histocompatibility complex (MHC) on the survival of H-Y-incompatible skin grafts in rats has been determined by challenging normal and previously sensitized females of various isogenic and congenic strains with male trunk or ear skin isografts. The MHC's influence on the potency of H-Y has also been evaluated by determining the survival of male parental strain ear skin grafts on sensitized (with F1 hybrid male cells) F1 hybrid females of two different MHC congenic strains. The results indicate that, as in mice, the MHC has a dual affect on H-Y; it is involved in determining the ability of females to respond to the antigen as well as influencing its potency.     

Oculo-facio-cardio-dental syndrome in a girl and her mother

Congenital heart defects are known to be associated with facial dysmorphism and other congenital anomalies. Oculo-facio-cardio-dental (OFCD) syndrome is one such rare multiple congenital anomaly syndrome inherited as an X-linked dominant condition characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects and dental anomalies. It is unrecognized by many medical and dental professionals. Only 21 cases have been reported so far. This syndrome is often misrecognized as rubella embryopathy because of association of congenital cataract with cardiac anomalies. It is usually the orthodontists who diagnose the syndrome based on typical findings on dental panoramic radiographs. But we suspected our patient to be having OFCD syndrome based on typical facial dysmorphism, ocular and cardiac defects, and finally it was confirmed after noticing typical dental radiographic findings.     

Reconstruction of the upper portion of the ear by using an ascending helix free flap from the opposite ear

Reconstruction of partial, marginal defects of the ear has been a challenge. The ascending helix free flap based on superficial temporal vessels has been described and used solely to repair nose defects. We used reversed pedicle helical free flap for the repair of a major loss of the upper one-third of the opposite auricle. The method permits the transfer of tissue of the same quality with satisfactory cosmetic result. The equalization of the ears in dimension was accomplished with minimal donor-site deformity.