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Objectives: The aim of study was to determine the pattern and management of neural tube defects (NTD). Methodology: It was a hospital based descriptive cross-sectional retrospective study on patients who consulted and/or were admitted at the Douala General hospital for neural tube defects from January 2005 to April 2015. Results: A total of forty-nine (49) patients were enrolled. Males constituted 59.8% and females 40.2% giving a sex ratio of 1.5 in favour of males. Most of the parents of the patients (71.5%) had a low socio-economic status. Myelomeningocele was the most common type (80.4%) followed by 17.4% cases of meningocele and 2.2% cases of lipomeningocele. Three cases (3) of encephaloceles were seen during this period. The commonest site of these defects was the lumbosacral region (47.8%). Other sites included lumbar (19; 41.3%), sacral (3; 6.5%) and thoracolumbar (2; 4.3%) ones. About half of the patients (24; 48.9%) presented with ruptured lesions. Hydrocephalus was also recorded in 65.3% of patients. Talipes equinovarus and talipes calcaneovalgus were the most common associated orthopedic birth defects found. Surgical closure was done for 44 (89.9%) patients. Ventriculoperitoneal shunting was done in 78.1% of those who presented with hydrocephalus. Post-operative complications were more frequent in patients with ruptured lesions (P = 0.001). The most common post-operative complications were wound infections (22; 44.9%) and wound dehiscence (20; 40.8%). Conclusion: Lumbosacral Myelomeningocele was the most common type of NTD in our region. Low socio-economic status was a common risk factor.

The foot may be the site of birth defects. These abnormalities are sometimes suspected prenatally. Final diagnosis depends on clinical examination at birth. These deformations can be simple malpositions: metatarsus adductus, talipes calcaneovalgus and pes supinatus. The prognosis is excellent spontaneously or with a simple orthopedic treatment. Surgery remains outstanding. The use of a pediatric orthopedist will be considered if malposition does not relax after several weeks. Malformations (clubfoot, vertical talus and skew foot) require specialized care early. Clubfoot is characterized by an equine and varus hindfoot, an adducted and supine forefoot, not reducible. Vertical talus combines equine hindfoot and dorsiflexion of the forefoot, which is performed in the midfoot instead of the ankle. Skew foot is suspected when a metatarsus adductus is resistant to conservative treatment. Early treatment is primarily orthopedic at birth. Surgical treatment begins to be considered after walking age. Keep in mind that an abnormality of the foot may be associated with other conditions: malposition with congenital hip, malformations with syndromes, neurological and genetic abnormalities.

Introduction The most common form of spinal muscular atrophy (SMA) is a recessive disorder caused by SMN1 mutations in 5q13, whereas the genetic etiologies of non-5q SMA are very heterogenous and largely remain to be elucidated. We present a father and son with atrophy and weakness of the lower leg muscles since infancy. Genetic studies in this family revealed a novel BICD2 mutation causing autosomal dominant lower extremity-predominant SMA type 2. Patients The proband was the father, aged 30, and the son was aged 3. Both of them were born uneventfully to nonconsanguineous parents. While the father first walked at the age of 19 months, the son was unable to walk at age 3 years. In both, knee and ankle reflexes were absent and sensation was intact. Serum creatine kinase levels were normal. The son showed congenital arthrogryposis and underwent orthopedic corrections for talipes calcaneovalgus. Investigation of the father at the age of 5 years revealed normal results on nerve conduction studies and sural nerve biopsy. Electromyography showed chronic neurogenic change, and muscle biopsy showed features suggestive of denervation. The father was diagnosed clinically with a sporadic distal SMA. Follow-up studies showed very slow progression. Investigations and results Next-generation and Sanger sequencing revealed a deleterious mutation in BICD2: c.1667A>G, p.Tyr556Cys, in this family. Discussion BICD2 is a cytoplasmic conserved motor-adaptor protein involved in anterograde and retrograde transport along the microtubules. Next-generation sequencing will further clarify the genetic basis of non-5q SMA.

Pes equinus is the most common deformity in cerebral palsy. A primarily dynamic pes equinus without shortening of the calf muscle in many cases turns into a structural pes equinus. This is due to insufficient linear growth of the calf muscle compared to bone growth. Structural pes equinus has to be distinguished from marked, compensatory and forefoot pes equinus. Conservative as well as operative treatment options are often applied in combination or sequentially. In dynamic pes equinus botulinum toxin A is the therapy of choice. Only slight structural pes equinus may improve under botulinum toxin A injection with and without additional casting. Usually, structural pes equinus requires operative treatment or lengthening of the gastrocnemius and/or soleus muscle (operation according to Baumann). Because of its side effect of inducing loss of power of the calf muscle, lengthening of the Achilles tendon should only be performed with caution. Especially in bilateral spastic cerebral palsy, the increased risk of causing talipes calcaneovalgus and crouch gait has to be considered.

Summary Congenital vertical talus is a rigid rocker-bottom flat-foot deformity, which was first described by Henken in 1914. Although this rare deformity may occur as an isolated primary deformity, it is usually associated with other congenital or neuro-muscular abnormalities such as neural tube defects, neuromuscu-lar disorders, malformation syndromes and chromosomal aberrations. Patients can be grouped by these associated conditions to different classification systems. The congenital vertical talus deformity is characterized by a primary irreducible dislocation of the talonavicular joint, in which the navicular articulates with the dorsal aspect of the talus. It should be differentiated from flat-foot deformities such as talipes calcaneovalgus, oblique talus deformities or hypermobile flatfeet, because prognosis and treatment are different. The objectives of treatment of congenital vertical talus are to reduce the navicular and calcaneus in a normal anatomic relationship to the talus and maintain the reduction, so that a plantigrade, weightbearing surface within the sole of the foot can be provided. Conservative means alone have had a very poor success rate, consequently open reduction has been advocated as the treatment of choice for congenital vertical talus by many authors. A number of techniques for operative treatment have been proposed, including open reduction of the talonavicular or calcaneocuboid joints with or without excision of the navicular, partial or complete talectomy, one stage or two stage techniques with open reduction in combination with different tendon transfers. Our approach to congenital vertical talus is a peritalar release using the Cincinnati approach, reduction of malposition of sub-talar joint complex and adjustment of tendons involved in the deformity, including reinforcement of the calcaneonavicular ligament. Furthermore it is recommended that for children aged from 3 to 4 years a concomitant Grice extraarticular subtalar arthrodesis can be performed to maintain correction. In older, untreated children or those in whom previous treatments have failed, a subtalar or triple arthrodesis may be necessary.

During the skeletal development of the axis and foot of the child physiological specialties can occur. Those are thick fatty sole, increased valgus in the ankle joint, tibial varus as a toddler with first varus, later on valgus in the knee, increased laxity of the ligaments, increased anteversion of the femoral neck with "kneeing in" and "toeing in", and with knees first in flexion, later on hyperextension. The knowledge of those specialties is important to be able to diagnose and treat deformities of the foot during childhood. Included are club foot, flexible flatfoot, vertical talus, pes adductus, equinus, cavus foot and talipes calcaneovalgus. If treated at the right time, those disorders of the feet can resolve completely. If an operation can't be avoided, the indication has to be chosen with care.

Newborn feet come in a variety of shapes and sizes. The foot is malleable, making it susceptible to compression and deformation from intrauterine positioning. Clinicians frequently question whether variations represent deformations, that is, an alteration in the shape and contour of a normally formed foot, as opposed to a true structural malformation. Distinguishing between a temporary positional deformity and a more serious structural foot malformation is challenging and requires a clear understanding of the anatomy of the foot, its complex embryologic development, and the impact of environmental and intrauterine factors. This installment of Focus on the Physical provides a systematic framework to identify normal, abnormal, and atypical foot deformities in the newborn period. The current theories of pathogenesis are provided, along with a step-by-step approach to the examination of the foot. A series of clinical photographs illustrate talipes equinovarus, metatarsus adductus, talipes calcaneovalgus, and congenital vertical talus. A discussion of the diagnostic studies used to differentiate these abnormalities is provided, along with a brief overview of treatment options. Early recognition and treatment are essential to ensure optimal long-term functional outcomes.

The lateral distribution of external birth defects has not been reported in a comprehensive way, and patterns in this distribution have not been examined. This study presents the lateral distribution of 6,390 unilateral defects from among 102 defect categories in data collected by the Metropolitan Atlanta Congenital Defects Program. Among all defects, 49% (95% CI 48-51%) were right-sided. Among males and females, 51% (95% CI 50-53%) and 47% (95% CI 46-49%) of the defects, respectively, were right-sided. Of the 102 defect types, 57 had an excess of defects on the right side of the body; 39 had an excess of defects on the left side; and 6 were equally distributed. The excess on the right side was statistically significant for inguinal hernia, incarcerated inguinal hernia, microtia, preauricular sinus, talipes calcaneovalgus, and lambdoidal craniosynostosis. For the left side, the excess was statistically significant for preauricular tags, cleft lip, fused lip and cleft gum, cleft lip with cleft palate, congenital hip dysplasia, unstable hip, absent forearm or hand, anomaly of the knee, and skin tags. The percentage of right-sided defects among case subjects with unilateral defects was correlated with the percentage of males among all case subjects (r = 0.24, P 0. 10). Differences in the lateral distribution of specific birth defects may be due to subtle differences in morphogenesis on the left and right sides of the embryo brought about by establishment of left-right asymmetry prior to organogenesis. The fact that more defect categories were right-sided than left-sided may be related to the observation that mitochondrial maturation in rat embryos is delayed on the right side. The right side, therefore, may be more susceptible than the left to defects caused by prenatal hypoxia. The significant correlation between the percentage right-sided and percentage male may then also be related to the observation that male sex hormones lower the mitochondrial respiration rate in rats and increase rat sensitivity to chemical hypoxia. Investigators should consider reporting the laterality of specific defects in both laboratory and epidemiological studies of birth defects. Right- and left-sided defects should perhaps be considered separately in etiologic studies of birth defects. Teratology 60:265-271, 1999. Published 1999 Wiley-Liss, Inc.

We describe a very unusual combination, and previously unreported, of malformations in an 18-week, spontaneously aborted male fetus. The fetus had a reversed dorsoventral positioning of the head and upper limbs relative to the body axis with the head and both upper limbs directed dorsally, and an abrupt rotation of the vertebral bones at the level of CZ The fetus also had asplenia, single ventricle, and conotruncus. The fetus also had flexion deformities at the wrist, reduction deformity of the left second digit, anomalies in ossification of the bones of the left hand, and bilateral talipes calcaneovalgus. The major malformations in this fetus were all blastogenetic in origin and consisted of dorsoventral patterning defect involving structures cranial to C7, a laterality, and a septation defect of the ventricle and outflow tract of the heart. The defects are interpreted as being the result of abnormal coordination of the molecular signaling involved in dorsoventral axis formation and laterality of the limbs and trunk, and possibly also in cardiac septation.

Objectives: To evaluate the association between large for gestational age (LGA) and demographic and medical risk factors as well as specific types of congenital anomalies. Study design: A retrospective, case-control study on 2,149,617 consecutive births was conducted. LGA was defined as 1.64 SD above the mean weight for gestational age, adjusted by sex and altitude. Risk factor frequency distributions were compared between LGA and normal birth weight neonates.Associations between LGA and 41 infants with isolated congenital anomalies were evaluated. Results: Of 31,897 neonates with congenital anomalies, 1800 were LGA. Five anomalies were associated with LGA: talipes calcaneovalgus, hydrocephaly, combined angiomatoses, hip subluxation, and non-brown-pigmented nevi. Multiparity, vaginal bleeding, diabetes, and delivery by cesarean section were more frequent in LGA than in appropriate for gestational age infants' mothers. Several maternal but no paternal factors were statistically associated with an increased risk for LGA infants. Conclusions: The clinical observation that nevi are more commonly observed in LGA patients was supported. The higher frequencies of hip subluxation and talipes calcaneovalgus among LGA neonates reinforces their pathogenesis as deformations, whereas those of combined angiomatoses and hydrocephaly could reflect increased fluid or body mass. (J Pediatr 2002; 140:200-4)

Twelve patients with residual talipes calcaneovalgus deformity due to poliomyelitis were reviewed. A two-stage Elmslie's arthrodesis was performed on nine patients with rigid deformity. Tendon transfer (peroneus brevis in one, peroneus brevis and longus in two) to the tendo Achillis insertion is used to correct the calcaneus deformity, after reduction of the calcaneus in the subtalar joint, using a Steinmann pin passed through the calcaneus. Good results were obtained in patients treated by arthrodesis. However, the deformity recurred in patients treated only with tendon transfer.

A case of partial deletion of chromosome No. 13 identified by G banding as 46, XX, del(13)(q21--ater) is reported in an infant with severe microcephaly, microphthalmos, talipes calcaneovalus, and a single crease on each of the little fingers. A review of other cases of chromosome No. 13 deletion that were identified by banding is presented and the correlation between clinical features and deletion of specific bands is discusses.

We describe a congenital deformity of the foot which is characterised by calcaneus at the ankle and valgus at the subtalar joint; spontaneous improvement does not occur and serial casting results in incomplete or impermanent correction of the deformities. Experience with five feet in four children indicates that release of the ligaments and tendons anterior and lateral to the ankle and lateral to the subtalar joint is the minimum surgery necessary; subtalar arthrodesis may be required in addition. The foot deformity described may occur as an isolated condition or in association with multiple congenital anomalies. The possibility of a neurological deficit should always be excluded.

Idiopathic talipes equinovarus (ITEV) or isolated club foot deformity is a common birth defect having an average birth prevalence of 1 per 1000 live births.1, 2 However, the birth prevalence of ITEV varies among different populations, ranging from 0.39-7 per 1000 live births, with the highest rate in the Hawaiian and Maori populations.3–5 ITEV occurs more frequently in males and the skewed 2:1 ratio is consistent across all ethnic groups.1, 4–7 Bilateral deformity is seen in more than half of the cases regardless of race and unilateral defects occur more often on the right side.8 ITEV is an isolated congenital deformity of the foot and lower leg occurring when the foot is plantar flexed and inverted.9 ITEV is just one of the many types of foot deformities that are referred to as club foot. Club foot is often used loosely to describe a variety of different abnormalities that are morphologically similar but aetiologically distinct.8 Both metatarsus adductus and talipes calcaneovalgus are considered mild and usually self-correcting abnormalities.9 While many refer to these mild conditions as club foot, talipes equinovarus (TEV) is suggested to be the only true club foot and generally requires serial manipulations and castings, followed by one or more surgical procedure(s).10, 11 Whereas TEV is part of many genetic syndromes, ITEV occurs as an isolated birth defect.12 Epidemiological studies have attempted to define the aetiology of ITEV and none has shown a significant association with socioeconomic factors or teratogenic exposures in non-Hispanic white, Hawaiian, African American, and Oriental populations.2, 7, 13, 14 Theories surrounding the aetiology of ITEV can be grouped into several categories: extrinsic prenatal influences, intrinsic anatomical factors, and genetic factors. The oldest theory of ITEV causation …

Congenital defect or absence of the musculature of the abdominal wall is a rare condition, but interesting in that postmortem examinations in these cases have revealed abnormalities of the genito-urinary system. In 1903, Stumme 1 compiled the cases recorded; in 1905 Garrod and Davies 2 collected all the cases published and added two of their own. In 1909, Mollison 3 arranged all cases reported, twelve altogether, in chronological order. He also added one case which he had under observation at that time. In 1913, Thatcher 4 next reported a case of congenital defect of the abdominal muscles with anomaly of the urinary apparatus, and the same year Smith 5 also presented a typical case in which a moderate degree of genu valgum and talipes calcaneovalgus were present on both sides. To this group of fifteen cases we add another in which the patient was admitted to the pediatric ward of

THREEEE female children we have observed have certain anomalies of the external genitalia which do not correspond to any known type of genital malformation. Report of Cases Case 1.—An immature newborn child weighed 2,100 gm (4 lb 9 ounces) and was 44 cm (17 inches) long. Death occurred approximately 24 hours after delivery. The child was found to be chromatin-positive. Postmortem findings revealed proximal tracheoesophageal fistula, defect of ventricular septum approximately 2 mm in diameter, talipes calcaneovalgus, epicanthus, and malformation of pinnae. Adrenal glands, ovaries, and uterus were normal. External genitalia were malformed (Fig 1). On each side, laterally and superior to the external vaginal opening, were two cutaneous lobules measuring approximately 3 × 2 × 1 cm. The vagina was prolapsed and its opening partially covered with two cutaneous duplications which extended from the elevated phallic region. The urethral opening was between them and above the opening of the