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Bardet-Biedl syndrome in a 10 year old boy from Botswana is described. The patient presented with retinitis pigmentosa, polydactyly, mental retardation, obesity and hypogenitalism. The patient has a twin brother who has the same clinical signs. This is the second time this condition has been described in the African literature and the first time reported in Black twins.
The Holt-Oram syndrome, first described in 1960, consists of non-cyanotic congenital heart disease, usually an atrial septal defect, arrhythmias and malformations of the upper limbs affecting the radial segment. The transmission of the syndrome is autosomal dominant with almost complete penetrance. The authors report the localisation of a genetic abnormality of the Holt-Oram syndrome on the long arm of chromosome 12 (12q21-q3) by analysis of linkage in 9 multiplex families (Zmax = 8.19 at locus D12S354). Multipoint analysis showed a genetic interval of 7 centimorgans containing a gene of the Holt-Oram syndrome between loci D12S84 and D12S79 (multipoint lod score, 10 g base 10 = 8.96). In situ hybridization of artificial yeast chromosomes containing the surrounding markers showed that a gene of the Holt-Oram syndrome is located in 12q23-q24. The genetic heterogeneity was demonstrated in 3 families of the Holt-Oram syndrome with polydactyly or without cardiac disease (homog-test: chi 2 = 13.28; p = 0.0001). The localisation of a gene of the Holt-Oram syndrome is, to the authors' knowledge, the first chromosomal localisation of a cardiac malformation with septal defects in man. The identification of this gene should open wide perspectives for genetic research of cardiac morphogenesis and clarify the molecular mechanisms which govern cardiac septation during embryogenesis.
Over a 14-year period in Chang Gung Memorial Hospital, 510 out of 44, 362 newborns were found to have birth defects. Maternal age, gestational age, parity, infant sex and birth weight were analyzed for each anomaly and compared to normal newborns. The average maternal age and parity for newborns with congenital anomalies were not significantly different from normal newborns. Mothers giving birth to babies with chromosomal aberrations, however, had a significantly older maternal age than the normal population. The gestational age at delivery was significantly shorter for all except craniofacial anomaly. In addition, there was a high percentage of intrauterine growth retardation in congenital anomalies. The central nervous system, the musculoskeletal system and craniofacial systems were the most commonly involved. The leading anomalies included cleft lip, cleft palate, anencephaly, polydactyly, hydrops fetalis, trisomy 21 and cystic hygroma. With improved ultrasound equipment and other prenatal diagnostic procedures, many defects of the fetus can now be identified. If the fetus is diagnosed with a surgically correctable lesion like cleft lip, it can be kept to term, delivered, then managed postnatally. If life-incompatible malformations have been detected before the 24th week, physicians are in a good position to counsel the parents. After the 24th week termination is proscribed by law. Therefore, physicians must take special care to detect fetal abnormalities early.
Two siblings with typical manifestations of whistling face (Freeman-Sheldon) syndrome (WFS) born to unaffected parents are presented. In Case 1, deep-set eyes, epicanthus, blepharophimosis, right lid ptosis, strabismus, anti mongoloid slant, small mouth, mask-like face, high-arched palate, nasal speech, dysphagia, kyphosis and minimal scoliosis were noted, while Case 2 displayed blepharophimosis, mask-like face, long philtrum, high-arched palate, scoliosis, bilateral post-axial polydactyly of the feet and pes varus. We corrected the blepharophimosis in Case 1 by bilateral canthotomy and canthoplasty. This syndrome is usually inherited as an autosomal dominant trait; however, some authors have reported an autosomal an autosomal recessive form of this syndrome similar to our cases. Nevertheless, this could be explained by genetic expression of the mutant gene.
Hypothalamic hamartomas are congenital malformations. The association between hypothalamic hamartomas and other dysplasias, including polydactyly, is known to be a neonatal lethal syndrome. We report on two patients (mother and son) with asymptomatic large hypothalamic hamartomas and polysyndactyly. The relationship of the patients suggests an autosomal dominant transmission.
The Laurence-Moon-Biedl syndrome is characterized by features of familial occurrence, retinitis pigmentosa, obesity, polydactyly, hypogenitalism and mental retardation. Recently, several reports have suggested renal abnormalities as an additional cardinal feature of the syndrome. We present two cases of this syndrome from two different families. The first case was an obese eight-year-old girl with poor vision and signs of mental retardation beginning at four months of age. An intravenous urogram showed dilatation of the minor calyces of both kidneys. Genital agenesis and typical retinitis pigmentosa on fundal examination all supported the diagnosis of Laurence-Moon-Biedl syndrome. The patient's father and grandmother also had symptoms of poor vision, mental retardation and obesity. The second case was an obese 14-year-old girl with blurred vision and severe mental retardation noticed at two to three months of age. Fundi showed typical retinitis pigmentosa. She also had genital agenesis but no significant family history.
An ano-cutaneous fistula associated with a Bardet-Biedl syndrome in a 12-year old African boy is described. The patient presented with mental retardation, obesity, syndactyly, polydactyly, retinitis pigmentosa and hypogenitalism. Past history revealed that he had an imperforated anus with anocutaneous fistula at birth, which was repaired successfully. The the best of our knowledge, it is the first case described in the African literature.
Ten thousand South African Black neonates were examined on the day after delivery for assessment of the frequency of congenital malformation of the musculoskeletal system. In 15 neonates it was found that the hip joints could be dislocated by the Ortolani or Barlow techniques. This instability persisted to 1 week of age in only 3 instances. This incidence figure is approximately 10% of the average reported for White's neonates. Talipes equinovarus deformity was found in 35 infants, an incidence of 3,5/1 000, or approximately three times the incidence cited for Whites. Calcaneovalgus deformity, however, was found in 3 infants only-- a much lower incidence than that found among Whites. There was a similar infrequency in the incidence of spina bifida aperta (cystica), which was noted in 7 infants. This figure correlates with reports from North America, but is substantially lower than the cited incidence in Wales and parts of England. Polydactyly, usually consisting of a postaxial pedunculated skin tag only, was the most common deformity found, the incidence being 8,8/1 000.
A 15-year-old girl and her 13-year-old brother had high myopia, mottled retinas with nonrecordable electroretinographic responses OU, and mental retardation. Both siblings had normal pupillary reactions to light, normal levels of serum amino acids, no nystagmus, no obesity, and no polydactyly. A consanguineous marriage of the patients' parents was found. We believe that the association of high myopia, retinal dystrophy, and mental retardation noted in these siblings may be uncommon.
Report on two siblings having died during the first days of life who exhibited a syndrome of polydactyly, renal aplasia and inter-sexual genitalia, and in one child an additional cleft palate and coarctation of the aorta with VSD. It shares several features with the syndrome of Smith-Lemli and Opitz. The syndrome of Ullrich and Feichtiger which had been taken into consideration earlier sould be rejected as a clinical and etiological entity.
A female infant with features of Jeune's disease is described. The pertinent clinical features were a long, narrow trunk, dystrophic rib cage with respiratory distress, short limbs, and polydactyly. Radiographically, she had only 11 pairs of short ribs which were expanded and flared anteriorly. There was a positive history of consanguinity. It is believed that she might still be alive, although no follow-up was undertaken.
We experienced five episodes of anesthesia for a girl with dryptophthalmos syndactyly syndrome and congenital subglottic stenosis from the age of 1.3 year to 4 years. A girl was born at 34 weeks of gestation. The birth weight was 1360 g. The Apgar score was 8 at one minute and there was a hoarseness. She had right cryptophthalmos, syndactyly of hands and left foot, left polydactyly, anomalies of ear and nose, and agenesis of right kidney. The operation was scheduled for syndactyly under general anesthesia when she was 17 days and 5 months. As intubation was unsuccessful in both occasions, the operation was cancelled and subglottic stenosis was pointed out. We decided to postpone the operation until she could cry fully without cyanosis. We evaluated her respiratory ability from the time she became able to cry fully without cyanosis. As a result, we could manage her without any complications such as hypoxia or hypercapnea except mild wheezing.
The Bardet-Biedl syndrome (BBS), which consists of polydactyly, obesity, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature. An attempt is made at clarifying the problem. Four children from two families have been observed. There were inter- and intrafamilial variabilities of the expression and severity of the particular features, but retinopathy and structural and/or functional abnormalities were found in 100%. The combination of the two can serve as an easy clinical screening for diagnosis of the disease. Renal involvement is considered to be a cardinal feature of the syndrome. The most common and earliest symptoms are polydypso-polyuria and reduced concentrating ability, which may lead to some diagnostic difficulties, especially in infancy. Three children have end-stage renal disease and two of them are on maintenance haemodialysis, which they tolerate well.
We reported a 6-month-old boy, patient of hypothalamic hamartoma with a rare association of poly- and syndactyly, which developed gelastic seizures and precocious puberty. His birth was complicated by poly- and syndactyly in both hands and polydactyly in both feet, but other physical signs were normal. At 5 month of age, he visited our hospital because of a suspected seizure. On admission, physical and neurological examinations revealed increased size in penis and testes, and delayed psychomotor development. Gelastic seizures occurred up to 100 times a day, and were resistant to many anticonvulsants. Ictal EEG showed bursts of generalized high voltage slow waves. His serum LH and testosterone levels were elevated for his age. Brain CT and MRI demonstrated a hypothalamic mass lesion, which proved to be hamartoma by biopsy.
OBJECTIVE: To determine the etiology, pregnancy complications, and outcome of isolated fetal pleural effusion diagnosed antenatally and to evaluate the benefits of prenatal fetal interventions. DATA SOURCES: A literature search of MEDLINE was performed for relevant English language publications between 1985-1991. In addition, reference lists of articles were used to identify reported cases of isolated fetal pleural effusion. METHODS OF STUDY SELECTION: Our search uncovered 31 papers published in peer review journals. From these reports, 82 cases met our selection criteria: All fetuses were diagnosed antenatally with pleural effusion and had no other signs of hydrops at initial diagnosis. DATA EXTRACTION AND SYNTHESIS: The etiology of isolated fetal pleural effusion was unknown in most cases. Possible causes included congenital chylothorax, goiter, lung tumors, and infection. Cardiac defects (4.9%), Down syndrome (4.9%), and polydactyly (1.2%) may be associated with isolated fetal pleural effusion. Perinatal mortality was high (36%) and was related to the development of nonimmune hydrops, prematurity, and pulmonary hypoplasia. Early gestational age at diagnosis of isolated fetal pleural effusion (32 weeks or less) was associated with poor outcome and a neonatal death rate of 55%. In contrast, the neonatal death rate approached 31% as gestational age at diagnosis exceeded 32 weeks. Fifty-four cases were managed conservatively whereas 24 received intrauterine intervention, which included either pleuroamniotic shunt or repeated thoracenteses. Neonatal death rates were 37 and 33%, respectively. CONCLUSION: Not enough data exist to support either the conservative approach or intrauterine pleural drainage in cases of isolated fetal pleural effusion diagnosed antenatally.
Two cases of bilateral congenital anophthalmos in Nigerian children are reported. Both cases are sporadic, and belong to the primary type of anophthalmos. The first case has associated polydactyly of both hands. There is no history of ingestion of any teratogenic drugs during pregnancy in the two cases.
Prenatal sonographic investigations were applied for malformations to 7,194 foetuses, between October 1985 and April 1992, with 28 cases of osteochondrodysplasia (OCD) and one case of dysostosis being dissected. Included were 20 cases of lethal osteochondrodysplasia, among them two cases of lethal hypophosphatasia, five cases of thanatophoric dysplasia, one case each of Type II shortrib (polydactyly) syndrome (VERMA-NAUMOFF) and metatropic dysplasia, three cases of campomelic dysplasia and eight cases of Type II A imperfect osteogenesis. Also observed were eight cases of nonlethal OCD, among them three cases of diastrophic dysplasia and five of achondroplasia. Dysostosis was recorded from one case and was diagnosed as Type V acrocephalosyndactyly (Pfeiffer). Identification of a specific OCD proved to be difficult in the second or third trimenon. Hence, the form of OCD was prenatally diagnosed only in ten of all cases investigated. Tentative diagnosis was first established from the postmortem radiograph. Additional malformations and other abnormalities then were detected by complementary pathologico-anatomic processing of findings. The final diagnosis was derived from radiological, pathologico-anatomic and histological findings. Diagnosis of this constitutional osteopathy is quite difficult and calls for interdisciplinary cooperation between gynaecologists, neonatologists, paediatric surgeons, radiologists, geneticists and pathologists. More effective counselling of affected families is the major purpose of all the efforts involved.
Type II polydactyly is relatively easy to treat by simple ablation. Central wedge resection is an alternative treatment, providing sufficient bone and soft tissue are excised. Duplication at the MP joint may be difficult to treat because of the frequently associated problems of joint deviation and limited motion, which may produce unacceptable results. MP joint deviation in the ulnar direction of less than 30 degrees does not require treatment. Treatment may be necessary for ulnar deviation greater than 50 degrees. Metacarpal osteotomy, arthrodesis, and central wedge resection are methods of treatment. Collateral ligament reconstruction and tendon transfer were unsuccessful in one patient. IP joint deviation of greater than 15 degrees may need treatment. If there is less than 10 degrees of motion associated with it, arthrodesis is indicated when the joint is skeletally mature. When opposition is impaired thenar muscle tendon transfer is an effective treatment.