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PubMed1991

One more case of a severe lethal condition resembling the Smith-Lemli-Opitz, type II syndrome.

A male child with a lethal multiple congenital anomaly syndrome of facial dysmorphism, ambiguous genitalia, syndactyly and postaxial polydactyly is presented. He had findings consistent with the diagnosis of Smith-Lemli-Opitz type II syndrome. Similar changes were observed in his elder sister, who died when she was 2 months old. On the basis of this familial observation the nosology of Smith-Lemli-Opitz syndrome is discussed.

Congenital Abnormalities↗
PubMed1991

Bardet-Biedl syndrome in a Zimbabwean child.

An isolated case of Bardet-Biedl syndrome in a 12 year-old Zimbabwean boy is described. The patient presented with retinitis pigmentosa, polydactyly, mental retardation, obesity and hypogenitalism. To the best of the author's knowledge, it is the first paediatric case described in the African literature.

Child↗
PubMed1990

[Genetic counseling and ultrasonographic prenatal diagnosis of skeletal dysplasias in monogenic and chromosomal syndromes].

The paper reports sonographic prenatal diagnosis of monogenic and chromosomal syndromes (congenital malformations) which are associated with skeletal abnormalities: autosomal recessive syndromes (shortribs--polydactyly, type II; dyssegmental dwarfism, type II; Pen-Shokeir disease type I), autosomal dominant syndromes (Larsen's syndrome, achondroplasia, Schmidt's metaphyseal dysplasia of segregating partial chromosome of 7 long-arm trisomy). All cases were detected in the second trimester; diagnosis of chromosomal diseases employed the amniocentesis. In aborted pregnancies, diagnoses were confirmed at autopsy. Pathognomonic sonographic markers were described for every syndrome; numerous conditions were differentiated from similar syndromes. Genetic counseling identified recurrence risks and offspring prognosis. Potentials of sonographic diagnosis of systemic skeletal dysplasia and a need for a syndrome-oriented approach to prenatal diagnosis are discussed.

Abnormalities, Multiple↗
PubMed1990

Bardet-Biedl syndrome.

Tapetoretinal degeneration, obesity, polydactyly, mental retardation, and hypogonadism are the cardinal signs of Bardet-Biedl syndrome. Formerly grouped with Laurence-Moon syndrome, Bardet-Biedl has established itself as a separate entity. It is one of the rare systemic diseases associated with a form of retinitis pigmentosa. Presented here is a case report of a child first diagnosed with this condition. The importance of identifying the systemic signs, ocular involvement, electrophysiologic testing, genetics, and management are discussed.

Abnormalities, Multiple↗
PubMed1990

Contribution to the morphometry of limb bud structures in the normodactylous and polydactylous rat. I. Apical ectodermal ridge.

The height of the apical ectodermal ridge on limb buds of the embryo laboratory rat was studied in the polydactyly-luxate syndrome and compared with the controls. The following findings were obtained: (a) On the 14th embryonal day, prior to the development of the anlage of mesenchymal condensates, the AER is higher in polydactylous animals as compared with the controls. (b) On the 15th, 16th and 17th embryonal day the height of the AER in the praeaxial region of the polydactylous limb bud largely predominates over the controls. A comparison of the height of the AER above digital rays and interdigital grooves of polydactylous and normodactylous animals does not thus exhibit any marked differences. This fact is attributed to the existence of more powerful induction processes of the underlying mesenchymal component where rudiments of supernumerary digital rays are formed.

Animals↗
PubMed1990

Early prenatal diagnosis of Meckel syndrome--a case report.

Meckel syndrome is a rare autosomal recessive disorder. The triad of the syndrome consists of occipital encephalocele, polycystic kidneys and postaxial polydactyly. At least two of these features are essential for the diagnosis, but other malformations such as microcephaly, cleft palate and ambiguous genitalia may also be present. The condition is considered invariably fatal. This report demonstrates that the prenatal diagnosis can in principle be established by ultrasound examination alone, and as early as 13 weeks' gestation.

Abnormalities, Multiple↗
PubMedDate not supplied

Lawrence-Moon-Bardet-Biedl syndrome: a case report.

A case report of the rare Lawrence-Moon-Bardet-Biedl Syndrome in a 10-year old Nigerian boy is presented. The findings were obesity, mental retardation, polydactyly hypogonadism, macula degeneration and retinities pigmentosa.

Child↗
PubMed1990

Meckel-Gruber syndrome. A lethal combination of abnormalities.

We herein describe two cases of Meckel-Gruber Syndrome identified in stillborn infants. Both had all three elements of the classical triad, namely, occipital encephalocele, renal cystic dysplasia and post-axial polydactyly. In addition, many of the other well-known accompanying abnormalities were present. Awareness of this entity in this region is important because of its high risk of recurrence in subsequent pregnancies.

Diagnosis, Differential↗
PubMed1990

[Laurence-Moon-Bardet-Biedl syndrome].

In 1984, 32 persons with Laurence-Moon-Bardet-Biedl syndrome (LMBB) were registered in Norway. This means that the disorder was seen at a rate of 1 in 128,000 inhabitants. Of these, 26 attended the Frambu Health Centre, where they consulted a pediatrician, a psychologist, a dentist, a social worker, a geneticist, a teacher for the blind and an ophthalmologist. The cardinal signs were retinitis pigmentosa, obesity and polydactyly. We also found that all the patients had disturbance of tooth formation. Many had hypogenitalism. Mental retardation is usually included as a cardinal sign. Our impression is that most of the patients have normal intelligence. But this will be investigated further in a follow-up study on young people with LMBB.

Abnormalities, Multiple↗
PubMedDate not supplied

[Proteiform syndrome (Proteus syndrome). Skin manifestations in a recently observed case].

The case of a 4-year-old female affected by partial gigantism of the feet, syndactyly and polydactyly, partial right hemihypertrophy of buttock and lower limb, warty hyperpigmented nevus and vulvar lipoma is described. The Authors discuss about the Proteus syndrome, pointing out its rarity, the polymorphism and the problems of differential diagnosis with the Klippel-Trenaunay-Weber syndrome and with other congenital hamartomatous disorders.

Abnormalities, Multiple↗
PubMed1989

[The value of echography in the early diagnosis of renal lesions in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of a case].

The Laurence-Moon-Bardet-Biedl syndrome (LMBB) is characterized by the association of obesity, hypogonadism, polydactyly, mental retardation and pigmentary retinitis. Symptomatic or asymptomatic renal dysplasia (calyceal diverticula, precalyceal tubular ectasia, cysts) is frequently associated with LMBB. The authors consider renal sonography as the convenient investigation for an early detection of such dysplasia as in the case they reported here.

Child↗
PubMed1989

Congenital musculoskeletal malformations in neonates.

A total of 13321 consecutive live births were studied for the incidence of congenital musculoskeletal malformations (CMSM) in neonates in relation to mother's age, parity, social class, sex and birth weight of the child. In all, 64 CMSM were observed in 54 neonates (4.054 per thousand live births). Congenital talipes equinovarus was the commonest CMSM while polydactyly and arthrogryposis were the next common CMSM in order of frequency. CMSM were more commonly seen in lower socio-economic class and in low birth weight babies.

Adolescent↗
PubMed1989

"Pure" partial trisomy 3p due to the malsegregation of a balanced maternal translocation t (X;3) (p22.3;p21).

The authors present the clinical and cytogenetic studies of a white malformed baby with dup (3p) secondary to the malsegregation of a maternal balanced (X;3) (p22.3;p21) translocation. Besides the typical clinical features he also presented polydactyly of both hands. X-replication findings of the mother's lymphocytes did not strictly follow the usual inactivation pattern of balanced X;A translocations.

Abnormalities, Multiple↗
PubMed1988

Cleft hand without absence of a finger.

Cleft hand implies a central longitudinal defect. In this paper, six cases of cleft hand with a normal number of digits are reported. Such clefts are less severe than those in which fingers are missing. In our cases, associated anomalies of the upper extremities were cutaneous syndactyly and a more severe cleft hand with an absent finger. Those of the lower extremities were polydactyly, syndactyly, and cleft foot. The clinical features of cleft hand with a normal digital count were similar to those with a missing finger. It is supposed that the teratogenic mechanism of such cleft hands are the same that is the failure of separation of finger rays. Cone shaped cleft of the hand is one of the phenotypes of the anomaly caused by the failure of differentiation of finger rays.

Female↗
PubMed1985

[Clinical and roentgenological study of the hands in synbrachydactyly, constriction band syndrome and cleft hand complex].

One hundred and six cases of synbrachydactyly, 63 cases of constriction band syndrome and 69 cases of cleft hand complex were clinically and roentgenologically studied and the following results were obtained. Synbrachydactyly is a group of hand anomalies in which the bone reduction appears transversely, and its severest form is a hand missing all the hand bones and the distal portion of the forearm, and with rudimentary digits on the stump. The association of dermal syndactyly or pectoralis muscle defect frequently seen in the milder cases of synbrachydactyly would be a secondary change to mesodermal hypoplasia or a related, but isolated malformation. Cleft hand complex which includes ordinary cleft hand, central ray polydactyly and central ray osseous syndactyly is a group of hand anomalies basically due to an ectodermal abnormality of separation of the digits. However, it is frequently associated with mesodermal hypoplasia or defect of various severity. The hand malformation in constriction band syndrome has a definite characteristic that the area of bone reduction is limited in phalanges.

Female↗
PubMed1985

Greig cephalopolysyndactyly syndrome. Report of a sporadic case.

A female newborn of healthy parents demonstrates the combination of postaxial hexadactyly type B of the hands (X-ray investigations show in addition duplicated terminal phalanges of the thumbs), preaxial hexadactyly of the toes, partial and total syndactyly of the fingers and toes. These findings are compatible with the diagnosis of Greig cephalopolysyndactyly syndrome. Dyscrania can not be demonstrated. In addition, our patient exhibits genu recurvatum on the left side resulting from intrauterine deformation. Sonography of the head reveals normal formation of the corpus callosum. The neurological status of our baby is inconspicious, and the psychomotor development up to the age of 2 5/12 years normal. The differential diagnosis of this characteristic combination of pre- and postaxial polydactyly has to consider the acrocallosal syndrome. In sporadic cases of Greig cephalopolysyndactyly syndrome it is important to investigate and follow the neurological status of the patients and in particular to use sonography to document the intact corpus callosum. Patients with Greig cephalopolysyndactyly syndrome have a normal development, children with the acrocallosal syndrome are retarded.

Child Behavior↗
PubMed1985

Congenital hand anomaly: etiology and associated malformations.

Congenital malformations of the hand may be present as part of syndromes. The recognition of these syndromes directly influences the surgical care of the hand anomaly. The natural history of the disorder may be predicted. The associated malformations may affect surgical timings and the indications for surgical correction. Various schema are presented here for evaluating the common abnormalities of the hand--radial club hand, ulnar defects, syndactyly, and polydactyly.

Abnormalities, Drug-Induced↗