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PubMed1985

[Cutis marmorata telangiectatica congenita. Associated abnormalities].

Eight cases of cutis marmorata telangiectatica congenita are presented and an analysis of associated alterations on seven is done. These abnormalities are mainly asymmetrical body development (hypotrophy of the leg in two cases, hemihypertrophy of body in five), hemihypertrophy of brain with psychomotor retardation in three patients, Nevus flameus on lumbar region in one and syndactylies on hands and feet in one. Inclusion of the disease into neurocutaneous syndromes is suggested and is emphasized the importance of the pediatric and neurological follow-up of these patients.

Brain↗
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↗
PubMed1986

[Morphology and classification of cleft hands].

It is the intention of this study to present a more profound investigation of the morphology of cleft hands and to provide a new classification based on the results of that investigation. After a short review of the literature, which shows the different opinions regarding heredity, pathogenesis and classification of cleft hand, the authors demonstrate their own patients with 35 cleft hands: The deformities were mostly bilateral and associated with cleft feet. In unilateral cases the right side was more common. Males were in the majority. This paper puts emphasis on the analysis of X-ray morphology. The authors are able to demonstrate that the cleft hand shows several peculiarities which have not been yet sufficiently respected. It was found out, that, apart from aplasia of the bones and soft tissue, synostosis is often the origin of clefting. In 40% of our cases the cleft was caused exclusively by synostosis, in a further 34% it derived partly from synostosis of the phalanges and the metacarpal bones. In the carpus we found osseous deformities surprisingly often, a feature which has hardly been mentioned in former studies. Among the numerous associated malformations emphasis must be placed on the osseous syndactylies and the central polydactylies, because they are closely related to the cleft hand as shown by Ogino. 18 of our own cases belong to this group. Our investigations lead us to the following classification: Cleft hand type 1: Cleft hands with osseous defects (aplasias) Cleft hand type 2: Cleft hands with synostosis Cleft hand type 3: Cleft hands with aplasias and synostosis Hands with central polydactyly and synostosis as preforms of the cleft hand could be classified in type 4. These phenomena form the beginning of the teratological row towards the completely developed cleft hand. In combination with Blauth's distribution of cleft hands, who distinguished the median and medio-lateral form (1976, 1978) this new classification enables each cleft hand to be placed into one of the different types, which are analysed: Type 1 mostly shows a medio-lateral form, is always combined with cleft feet and shows heredity in 50% of the cases. It cannot be classified by the Ogino method. Type 2 mostly shows a median form, is not frequently combined with cleft feet, heredity occurs in one third of the cases. This type can very often be classified by the Ogino method. Type 3 varies from case to case because of the different items of defects.(ABSTRACT TRUNCATED AT 400 WORDS)

Adult↗
PubMedDate not supplied

[Poland syndrome associated with Moebius syndrome].

We present a case of a girl with Poland's Syndrome (absence of pectoral muscle and syndactyly) associated with Moebius Syndrome. More abnormalities, especially visceral, may be associated with it and therefore the clinician must know and identify them as soon as possible. We underline the importance of a precocious correction of the hand's abnormalities in order to avoid changes in the corporal pattern otherwise not correctible later. A retard in surgical treatment will produce a failure like in our patient.

Child↗
PubMed1984

[Poland-Möbius syndrome. Apropos of 2 cases].

The authors report 2 sporadic cases of the Poland-Möbius syndrome in neonates. Both cases presented with unilateral facial palsy, bilateral loss of abduction of the eye, palatal palsy and tongue hypoplasia. The Poland anomaly was total in the first case (absence of pectoralis major, hypoplasia of the right superior limb, syndactyly and brachydactyly) and only partial in the second (absence of pectoralis major).

Cranial Nerve Diseases↗
PubMedDate not supplied

[A new (?) multiple abnormality complex similar to the Poland syndrome].

The report describes a case Poland's Syndrome - like in which the hypoplasia of the left major pectoralis muscle was associated with: subtotal aplasia of sternal body, severe hypoplasia of the ipsilateral scapula, humerus and forearm bones, tetradactyly in the ipsilateral hand, partial defect of the diaphragm with thoracic migration of the left hepatic lobe and secondary dextrocardia (false dextrocardia). Syndactyly was absent. The contribution is aimed to join out the radiological characteristics of the syndrome as well as the specific contribution provided in the case by Ultrasounds and aortography. Furthermore, the analysis of the case seems to indicate a strict relationship between the abnormalities of diaphragm, pectoralis muscle and homolateral upper limb.

Abnormalities, Multiple↗
PubMed1980

[Radiological appearances of congenital malformations of the hand (author's transl)].

Pre- and post-operative radiological appearances of various isolated congenital malformations of the hand are described, as observed in a personal series of 52 cases. Six groups of malformations can be distinguished, and are, in decreasing order of frequency: agenesias, syndactylies, duplications, amniotic bands, arthrogryposis, and macrodactyly.

Adult↗
PubMed1980

A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation.

A 17-year-old female patient presented extreme growth failure, severe microcephaly and developmental delay, and a unique pattern of congenital anomalies, predominantly of the skeleton and the skin. Prominent findings included hidrotic ectodermal dysplasia with virtually complete absence of body hair, ichthyosiform hyperkeratosis of the skin over the lower legs, dysplasia of toenails; small hands and feet with with short fifth fingers and toes complete cutaneous syndactyly between toes 4 and 5; in X-rays, fusion of several vertebral bodies, humero-radial ankylosis, fusion between talus and navicular bone, lunate and triquetral, and proximal fusion between metacarpals 4 and 5; and luxation of the right femoral head. The patient might represent a hitherto undescribed malformation syndrome of unknown etiology.

Abnormalities, Multiple↗
PubMed1980

[Unilateral Moebius syndrome associated with Poland's abnormality in a 25-year-old woman (author's transl)].

The authors present a case of unilateral Moebius syndrome associated with Poland abnormality in a 25-year-old woman. The patient had a complete left peripheral facial paralysis associated with involvement of both VI. In addition, there was microdactyly, syndactyly of the left hand, absence of the pectoralis major, of the mammary gland and nipple adding up to Poland syndrome. Surgery was envisaged with the aim of performing a hypoglossofacial anastomosis. Operation revealed muscles of normal appearance with a somewhat thin digastric and total absence of the facial nerve both at the point of its emergence through the stylomastoid foramen as well as in the parotid.

Abducens Nerve↗
PubMed1981

[Mohr's syndrome : type II orofaciodigital syndrome (author's transl)].

Mohr's syndrome consists of an association of three types of malformation : oral, facial, and digital. It is very similar, therefore, to the syndrome of Papillon-Léage and Psaume. Apart from this, precise, constant characteristics can be recognized which identify it as a separate entity. Firstly, the genetic mode of transmission differs. Secondly, clinical signs are dominated by the frequency and severity of the distal lesions, such that bilateral syndactyly of the big toe is a key element in the differential diagnosis.

Abnormalities, Multiple↗
PubMed1982

[Radiology of the infantile hand as a mirror of clinical syndromes (author's transl)].

Significant radiographic findings of the pediatric hand are described as far as they are useful for the diagnosis of a suspected clinical syndrome. Normal variants that can simulate pathological findings are demonstrated. Deviations of skeletal age from chronological age and their clinical significance are discussed. Diagnostically useful malformations (hexadactyly, syndactyly, brachyphalangy, cone shaped epiphyses and anomalies of the thumb) are presented in the context of typical cases of selected syndromes. The importance of establishing a correct diagnosis in these cases is stressed with regard to individual prognosis of the patient and genetic counselling of the family.

Acrocephalosyndactylia↗
PubMed1982

[Sibling case of osteosclerosis with cranial nerve symptoms].

We experienced two cases of "Osteosclerosis" who were 12 and 15 year old sisters. Previous reported cases of this disease are 50 cases and among them only one patient was reported in Japan. Osteosclerosis seems to be inherited as an autosomal recessive trait. Parental consanguinity is also observed. The peculiar facies are evident in infancy, characterized by broad, flat nasal bridge, ocular hypertelorism and prognathic, broadened mandible. Commonly, they have cutaneous syndactylies in bilateral hands and feet, especially between the second and third finger and toe. Roentgenographically, hyperostosis with osteosclerosis can be observed in systemic bones, particularly the calvarium is greatly thickened. Since such a bony change occurs most severely at the base of the skull, important clinical symptoms of this disease are cranial nerve palsies resulting from obliterations of unilateral or bilateral several cranial nerve foramina. In many cases deafness due to progressive encroachment upon the middle ear cavities and auditory nerve canals appears early in infancy. Transient palsy of the facial nerve occurs somewhat later, and bilateral facial paralyses are usually permanent in adulthood. In some cases optic atrophy and visual field defect due to compression of the optic nerves are late complications. Other ocular symptoms are strabismus, nystagmus and exophthalmos. Anosmia and trigeminal nerve palsy are less common. Lower cranial nerve symptoms can not be noted but the reason is unclear. Chronic headache, convulsion and mental retardation are occasionally present. They are considered as a result from increased intracranial pressure due to progressive diminution of the cranial capacity. By same mechanism, several patients have died suddenly from impaction of the medulla oblongata in the foramen magnum in early adulthood. Then, some reporter puts emphasis on prophylactic opening of the foramen magnum in all adult cases.

Adolescent↗
PubMed1982

[Nail fold formation using a thenar flap in complete syndactylia].

In complete syndactyly fingers are fused along their whole length and the nail is continuous over a narrow osseous bridge between the nail processes of the distal phalanges. When the fingers are separated there is no adjacent skin to form a lateral nail fold and, therefore, the finger end will become distorted. By using a thenar flap to the dorsal aspect of the syndactylic finger tips material is transferred to create normal lateral nail folds when the fingers are separated some months later.

Child↗
PubMed1982

[Systematic study of limb anomalies in a population of 35,600 consecutive newborn infants].

During the surveillance of a consecutive sample of 35.600 liveborn infants in an urban hospital, limb anomalies were specially analysed. Polydactyly (28 cases), syndactyly (14 cases) and absence deformities (20 cases) looked not rare. No specific human teratogen have been recognized but this epidemiologic study is still in progress. The effect of chronic exposure to volatile anesthesics in operating rooms is evoked in two ectrodactylies.

Arm↗
PubMed1984

Severe limb deficiency in Poland's syndrome.

Although Poland's syndrome is classically considered to consist of simple syndactyly, limb hypoplasia, and ipsilateral pectoral muscle agenesis, a rate group of patients with pectoral agenesis has more severe limb deficiencies. In ten of these patients and in similar patients reported in the literature, a broad range of limb deformities was observed. The authors classified the patients according to limb anomalies: type 1, five digits present even if hypoplastic; type 2, functional border digits with the absence of central digits; type 3, more severe absence deformities with no functional digits; and type 4, radial ray defects with absent thumb. The understanding that Poland's syndrome includes a spectrum of limb anomalies is important in searching for associated birth defects, in genetic counseling, and, possibly, in elucidating the pathogenesis of the syndrome.

Child↗
PubMed1984

[Greig's syndrome. Neonatal radiologic manifestations].

A newborn infant with postaxial polydactyly of the hands, preaxial polydactyly of the feet, syndactyly and craniofacial dysmorphism (Greig's Syndrome) is reported. The radiographic manifestations in the neonatal period are described. The advanced bone age, the unusual shape of the iliac bones and the supernumerary prehallux toe are new radiological findings in Greig's Syndrome at this age. The diffuse distribution of skeletal anomalies suggests a more complex problem of the intrauterine process of ossification.

Abnormalities, Multiple↗