A case of holoacardius is presented from a monozygotic twin pregnancy of 20 weeks, in which the other twin was normal. The classification is reviewed. While the physiology and anatomy of these malformations are known, the etiology remains obscure. Theories of etiology may be divided in two groups: that the ...

A case is reported of a child who presented with a median cleft of the lip and alveolus with polydactyly, a complex form of syndactyly and multiple toe anomalies. This is the fifth case to be reported with these features and the second case to be reported in a non-Indian ...

We report on 11 cases of amyoplasia in one of identical twins. In total, 135 patients with amyoplasia were ascertained from a study of 350 patients with multiple congenital joint contractures (arthrogryposis). These 11 cases of identical twins with amyoplasia represent 8% of our patients with amyoplasia. At least 18 ...

In 157 spontaneously aborted human embryos and fetuses the incidence and evolution of coronal cleft formation was investigated radiologically and histologically. Complete clefts were formed in nine cases and incomplete clefts in 16 cases. There was a predominance of males. It is concluded that coronal clefts are variations of normal ...

Schizencephaly means clefts in the brain and refers to that condition of dysmorphogenesis in which there are bilateral, usually symmetrical, clefts in the region of the central sulcus. This condition is readily demonstrated by computed tomography and is associated with severe mental retardation. We add three case studies to those ...

The increased risk associated with multiple gestation requires antepartum fetal surveillance with electronic fetal heart rate monitoring. Occasionally the nonstress test is abnormal in one fetus. We reviewed such a case for the pertinent questions about management of a nonreactive nonstress test in a twin gestation. From the case and ...

One of the most difficult sequelae of the cleft lip syndrome is the post-operative nasal deformity. In this presentation we define that deformity according to its components, review the groups of procedures which are available for its correction and suggest a more aggressive approach with the use of additional skeletal ...

First branchial cleft anomaly is an uncommon clinical problem that can be difficult to diagnose and treacherous to treat. It is generally believed that branchial anomalies arise from incomplete resolution of branchial cleft remnants. They may be a fistulous tract or cystic lesions, and they may be found in all ...

Cleft lip and palate is the most common congenital abnormality seen in the Department of Plastic Surgery, Singapore General Hospital. A total of 461 operative cases seen over a period of 5 years (1977 to 1981) is analysed. There is a relatively high incidence in the Singapore population of 2.0 ...

The cases of a pair of monozygotic female twins simultaneously concordant for anorexia nervosa area reported. About half of the previously reported cases of anorexia nervosa in twins are concordant; however, interpretation of the clinical data reviewed is difficult because diagnostic criteria are not always clear. Clinical parallels between anorexia ...

The laryngo-tracheo-oesophageal cleft is marked by a missing anatomical separation of the oesophagus and the larynx. The cleft can be restricted to the dorsal part of the larynx (type I), extend to the upper area of the trachea (type II) or involve the whole of the trachea (type III). In ...

Seventeen heart specimens with tetralogy of Fallot were studied to assess the anatomy of the ventricular septal defect and the disposition and potential vulnerability to surgical trauma of the atrioventricular conduction tissue. Eleven had defects of the perimembranous type. In the majority of these cases the non-branching and branching atrioventricular ...

The inheritance of Robinow's syndrome has been thought to be autosomal dominant. However, since no cases of male-to-male transmission have been reported, it has been impossible to rule out X-linked dominant inheritance. We studied a case of male-to-male transmission in a father and son with Robinow's syndrome and cleft lip-cleft ...

Anatomical features are described in a case of cephalothoracopagus female twins with laterally fused heads. There was a single foregut, shared equally by the two individuals. The tracheae, lungs, hearts, livers, and gallbladders were also shared by the two individuals. They were located in the anterior and posterior regions of ...

A pair of monozygotic male twins discordant for ectopia vesicae urinariae is described. There is no reason to think that any exogenic factors contributed to the aetiology. There was no consanguinity and no history of congenital anomalies on either side of the family. Published reports concerning family incidence and twin ...

In 1979, Askevold and Heiberg made an interesting contribution to the discussion on the hereditability of anorexia nervosa by reviewing a series of case reports concerning monozygotic twins. Their data, however, were not entirely accurate and they also overlooked some important references which are briefly discussed. 3 cases of the ...

A case of central nervous system heterotopia, in association with a unique cleft palate deformity, is presented and discussed. Only two cases of such palatal lesions in association with cleft palates have been previously reported. The subject of pharyngeal and palatal central nervous system heterotopia is reviewed, and hypotheses to ...

The fourth branchial cleft anomaly has long been postulated. A case in which a lower neck sinus tract extended under the clavicle near the subclavian vessels is presented. The distinguishing features of bronchogenic and branchogenic anomalies are discussed. It appears that unless a complication (e.g., abscess, inflammatory process) of the ...

12 cases of conjoined twins from West Africa were reported between 1936 and 1978. Eight sets were liveborn and were surgically separated either in local hospitals or abroad. Four were stillborn. Two new cases of stillborn conjoined twins were recently delivered at this hospital. The most common type and the ...

This case probably represents the youngest such patient reported in the literature. The large upper lip defect due to a dog bite has been primarily and successfully repaired with an Abbé flap.

Three infants had congenital eyelid bands, ankyloblepharon filiforme adnatum (AFA), in association with cleft lip and palate. A review of the literature of all previously reported cases of AFA was performed and a new classification of the various clinical types of AFA is proposed. This new classification should aid in ...

A case of complete cleft sternum is presented along with the nomenclature of sternal defects. It is recommended that the term ectopia cordis should be applied only to cases in which the heart and thoracic viscera are genuinely ectopic. Surgical correction of complete cleft sternum should be performed in the ...

Our experience with anomalies of the first branchial cleft is reviewed. This includes 38 cases, the largest series collected to date. A new classification is proposed based on the anatomic findings--whether cyst, sinus, or fistula is present. The embryology and pathology of first cleft anomalies are discussed and an approach ...

A report of clefting in three siblings of quintuplets, following treatment with Pergonal, is presented. It is suggested that the varying degrees of the abnormality may be related to cramped intra-uterine conditons or differing pressures at a critical developmental stage. To our knowledge, no previous reports of congential abnormalities associated ...

A 16-year-old girl with transsphenoidal meningocele and signs of hypothalamic insufficiency is presented. Hormonal disturbances have been reported in only three similar cases in the literature. The radiological criteria for the diagnosis are discussed with emphasis on the differential diagnosis of a persistent cranipharyngeal canal. Based on the present case ...

Published reports on the sex ratio of spina bifida have been reviewed. With one exception, there seems to be no evidence of variation in the sex ratio of spina bifida. In particular, unlike anencephaly, the sex ratio of spina bifida seems to be unrelated to the prevalence of the malformation: ...

A silicone ear frame was used in a series of 31 minor microtia cases for subtotal external ear reconstruction. The authors' original method is described and includes the unfolding of the microtic ear in 3 flaps, circular shape trimming of the frame, and enlargement of the conchal cavity. There have ...

Two cases of ankyloblepharon filiforme adnatum in siblings are presented. One sib had associated cleft lip and palate, the other had bilateral syndactyly of the second and third toes. Father, paternal grandmother, and great-grandmother all had bilateral syndactyly of the second and third toes. Cases of ankyloblepharon filiforme adnatum reported ...

A five-year-old boy of Iranian origin with multiple anomalies is described. His parents are first and second cousins. He presented with short stature, psychomotor retardation, microcephaly, ptosis, dacryostenosis, partial left nerve deafness, high arched palate, bifid uvula, total fusion between incisors, asymmetric preaxial and postaxial polysyndactyly, brachyphalangy, kyphosis and spina ...

Two female monozygous twin pairs discordant for anorexia nervosa are reported, and literature reports on 18 other monozygous pairs are reviewed. Four of the reported pairs are inadequately described and there is doubt about the diagnosis. When the 2 pairs reported here are included, 16 pairs remain: l (38%) were ...

Two cases of holoacardius are presented. Both had a normal 46,XX female karyotype, identical to that of their respective cotwin. Data are presented supporting the concept that the placental vascular anastomoses are the primary agents in the formation of an acardiac. Cytogenetics, epidemiology and other theories of pathogenesis are discussed.

An omphalocele is a congenital defect of the abdominal wall, through which intestines and other intraabdominal organs protrude outside the abdominal cavity. The defect in the abdominal wall is covered by a translucent sac composed of peritoneum internally and amniotic membrane externally, through which the viscera can be seen. Such ...

The cryptophthalmos syndrome generally consists of cryptophthalmia, dyscephaly (cleft lip and palate, nasal and ear defects, meningoencephaloceles, etc.), syndactyly, and urogenital malformations. This disorder is rare. Approximately 55 cases have been reported, with only a few described in the American literature. A three-year-old boy with this rare syndrome is described. ...

We report eight patients with the craniofacial defects and limb anomalies of the (amniotic deformity, adhesions, mutilations) ADAM complex. Facial abnormalities comprise clefts and distortion and dislocation of craniofacial structures; limbs show various combinations of amputation, secondary syndactyly, and constriction. From previous reports and our cases it is obvious that ...

A case of lateral hypopharyngeal diverticula is reported. This type of diverticula is comparatively rare. The diagnosis can be made clinically and confirmed by x-ray examination and hypopharyngoscopy. A pharyngocoele is of differential importance as this may be present in many patients during Valsalva, but does not indicate treatment. The ...

Monozygotic female twins were concordant for tracheo-esophageal fistula (TEF); and one twin also manifested other anomalies in the VATER association, including agenesis of the female reproductive tract. Review of the literature discloses a familial tendency for recurrence of TEF and a high concordance rate in monozygotic twins, indicating a significant ...

Laryngotracheoesophageal cleft was reported by Richter in 1792 after he examined an infant at autopsy and found a common lumen of esophagus and laryngotrachea. The next case was not noted until 1949 by Finlay. A recent review shows 40 cases in the world literature to date. Successful surgical approaches to ...

We report a case of nipple hypertrophy in male gynecomastia. By raising 4 small quadrant flaps on the areolar-nipple junction, we were able to do an appropriate core excision of the gynecomastia and hypertrophied nipple--and closure of the flaps produced a small simulated nipple.

The idea of reincarnation is presented as having considerable explanatory value for several features of human personality and biology that currently accepted theories do not adequately clarify. Reincarnation is not offered as a substitute for present knowledge derived from genetics and understanding of environmental influences; it may, however, usefully supplement ...

A five-year-old boy is presented with an undifferentiated myopathy, retinitis pigmentosa, incomplete cleft lip, short stature (less than third percentile), mild delay in development, and seizures. To date, no etiology or pathogenetic mechanism has been discovered to account for these, and no similar cases have been encountered in the literature.

The case of a 74-year-old woman with the rare popliteal pterygium syndrome is presented. This syndrome is inherited as an autosomal dominant trait with incomplete penetrance and varying expression and consists of cleft lip and palate, lip pits, genital anomalies, popliteal pterygium, and malformations of the extremities. The various treatments ...

The literature on oral teratomata is reviewed, and a theory for the embryological basis for these malformations is presented. We present an unusual case of Class III (Schwalbe) teratoma, in association with a complete cleft of the hard palate. Corrective surgery was required in the neonatal period.

Two types of congenital laryngeal defects in the adult are presented. The first case is a patient with a laryngeal cleft who became symptomatic at 42 years of age. Dysphagia, dyspnea, hoarseness and aspiration progressed in severity until surgery was necessary at the age of 48 years. The second case ...

Based on personal observations a new classification of facial, cranio-facial and latero-facial clefts is proposed. The orbit is used as the primary structure of reference. Fifteen locations for clefts can be differentiated. Their course through soft tissues and bone is described in detail and illustrated with typical cases. Combinations of ...

Based on 25 cases with unilateral cleft of lip, alveolus and palate with retromaxillism (CLAP) and 25 cases with pure retromaxillism (RM), the effect on the lip of advancing the maxilla by Le Fort I osteotomy is analysed. It can be shown that on average the base of the upper ...

A family is described in which a father and son are affected with ectrodactyly, ectodermal dysplasia and cleft palate. This particular constellation of major malformations may constitute a variant form of the EEC syndrome which characteristically includes cleft lip with or without cleft palate. From a review of the cases ...

Six new cases of monoamniotic twins are reported. All had true knots of the cord, the result being double survival in 5 cases and 11 normal children. The mechanism of twin development is described and monoamniotic twins are placed in accordance with the two theories from the literature. A short ...

A 46-year-old man had metastasis to the central tegmental tract of the pons with ipsilateral olivary hypertrophy. Although the phenomenon of palatal myochlonus has been repeatedly correlated with the finding of olivary hypertrophy, no palatal myoclonus was noted on repeated examinations. The clinical pathologic correlates and literature of similar cases ...

Our experience in patients with velopharyngeal incompetence but without overt cleft palate is described, and the literature is reviewed.

Out of 2,000 consecutive ear, nose and throat patients, 44 were found with bifid uvulas. Five of the cleft uvulas were associated with submucous cleft palate, and eight were associated with short palates; however, dyslalia was evident in only one case. Compensation for the wide palato-pharyngeal space can occur by ...