Condrodisplasia punctata: reporte de un caso y revisión de la literatura / Chondrodysplasia punctata: case report and literature review

Mediante la denominación de condrodisplasia punctata (CDP) se describe a un grupo heterogéneo de displasias esqueléticas infrecuentes caracterizadas por calcificaciones puntiformes del cartílago. Éstas se localizan en las epífisis y en las vértebras desde la infancia e incluso durante el período prenatal, y desaparecen a medida que transcurre la niñez. Esta enfermedad se caracteriza por su heterogeneidad genética, esto es la posibilidad de generar una serie de fenotipos similares que pueden estar determinados por genotipos diferentes. Se reporta un caso de condrodisplasia punctata rizomélica diagnosticado a las 32 semanas de edad gestacional. Se discuten los hallazgos ultrasonográficos así como la forma de presentación de otras variedades de condrodisplasia punctata.

Implicaciones anestésicas de la condrodisplasia punctata. A propósito de un caso / No disponible

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Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy.

Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy: A variety of osteodysplasias are referred to with the term chondrodysplasia punctata (CDP). Here we report on two sibs, a boy and a girl, with probable autosomal recessive form of CDP and epilepsy followed-up for 30 and 19 years, respectively. Family history was unremarkable but for consanguinity. Pregnancies and deliveries were uneventful. At birth, length was 46 (-3SD) and 45 (-4SD) cm, respectively. Craniofacial dysmorphism was noted: severe nasal hypoplasia, flat face, hypertelorism, a low nasal bridge, short stature. Skeletal abnormalities included epiphyseal stippling in the thoracic spine, bilateral proximal and distal humeri, femur, tibia and bilateral carpal and tarsal bones. The boy had a hemivertebrae T12, with absence of a rib. After the age of 6 years facial dysmorphism had improved. Final height was 154 cm (-3SD) in the boy and 158 cm (-0,5SD) in the girl. The boy was operated on for scoliosis. Both sibs had club feet, the girl had also genu valgum. IQ was evaluated to be 55 in the girl and 83 in the boy. The first non febrile generalized seizure appeared in the boy when he was 11 months of age, and in the girl when she was 25 months of age. Both had many other seizures and were taking antiepileptics. EEG were abnormal. Karyotypes were normal. Extensive screening for metabolic disorders was normal. Acquired in utero CDP were excluded. We suggest the sibs described in this report have yet another provisionally unique possibly autosomal recessive syndrome, with CDP and epilepsy as phenotypic traits.

Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system.

We describe in this paper a patient with brachytelephalangic chondrodysplasia punctata (BCDP) who has multiple serious medical problems and striking physical abnormalities. These include cervical spine stenosis with resultant quadriplegia, severe nasal hypoplasia, and brachytelephalangy. Radiographs taken shortly after birth demonstrated extensive epiphyseal and vertebral stippling, and distal phalangeal hypoplasia. The pregnancy was complicated by maternal intestinal obstruction due to a small bowel carcinoma and probable malabsorption. The severity of the phenotype in this case may have been influenced by these maternal factors particularly vitamin K deficiency.

Condrodisplasia punctata (Happle) / Chondrodysplasia punctata (Happle)

Se presentan 2 pacientes con condrodisplasia punctata atendidos en el Hospital de Pediatría Prof. Dr. Juan P. Garrahan entre los años 1990 y 1997. Ambas pacientes eran de sexo femenino con edades de 3 y de 30 días, respectivamente, en el momento de la consulta. Los dos casos presentaron lesiones cutáneas y óseas características del síndrome, con asimetría de miembros inferiores desde el nacimiento, confirmándose posteriormente mediante el estudio radiológico de huesos largos la presencia de displasia punteada de los mismos. Asimismo una de las dos pacientes presentaba polidactilia de mano izquierda, sindactilia de 2º, 3º y 4º dedos de pie derecho, microoftalmos con catarata de ojo izquierdo y alopecia. La condrodisplasia punctata tipo II es heredada en forma ligada al X, letal para los varones. Los cambios cutáneos ictiosiformes siguiendo las líneas de Blaschko son l

Condrodisplasia punctata (Happle) / Chondrodysplasia punctata (Happle)

Se presentan 2 pacientes con condrodisplasia punctata atendidos en el Hospital de Pediatría Prof. Dr. Juan P. Garrahan entre los años 1990 y 1997. Ambas pacientes eran de sexo femenino con edades de 3 y de 30 días, respectivamente, en el momento de la consulta. Los dos casos presentaron lesiones cutáneas y óseas características del síndrome, con asimetría de miembros inferiores desde el nacimiento, confirmándose posteriormente mediante el estudio radiológico de huesos largos la presencia de displasia punteada de los mismos. Asimismo una de las dos pacientes presentaba polidactilia de mano izquierda, sindactilia de 2º, 3º y 4º dedos de pie derecho, microoftalmos con catarata de ojo izquierdo y alopecia. La condrodisplasia punctata tipo II es heredada en forma ligada al X, letal para los varones. Los cambios cutáneos ictiosiformes siguiendo las líneas de Blaschko son la característica más importante y permite diferenciar el tipo II de la CD de los demás grupos. Es importante remarcar que en ambos casos las manifestaciones cutáneas fueron fundamentales para el diagnóstico de esta enfermedad

Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.

Chondrodysplasia punctata (CDP) is a heterogeneous group of rare bone dysplasias characterized by punctate calcification of cartilage. The punctate calcifications are non-specific and have been seen in a wide variety of disorders including the Zellweger syndrome, warfarin, dilantin, alcohol and rubella embryopathies, vitamin-K-epoxide-reductase deficiency, chromosome trisomies 18 and 21, the Smith-Lemli-Opitz syndrome, prenatal infectious chondritis, hypothyroidism, and other rare disorders. We report on a boy with short stature, developmental delay, nasal hypoplasia, telebrachydactyly, hypoplastic genitalia, CDP, ichthyosis, hypoplastic genitalia, and a 46-X,+der(X),t(X;Y)(p22.31;q11.21), Y karyotype. Genomic DNA probe analysis was interpreted as showing that the translocation breakpoint was within the X-linked Kallmann syndrome gene. We review a current classification of these disorders that includes 3 well-defined single gene disorders. These include an autosomal recessive rhizomelic type with early lethality, an X-linked dominant type with presumed male lethality, and an X-linked recessive type that has only been described as part of a contiguous gene deletion syndrome.

Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity?

We report on a girl with symmetrical rhizomelic shortness of the upper limbs and punctate epiphyseal calcifications noted at birth. Presumably she has normal height, but short nose, short hands, and normal mentation; and on roentgenograms short and wide humeri, symmetrical brachymetacarpy, especially of the 4th metacarpals, and hypoplastic distal phalanges, sagittal clefting of vertebral bodies, and punctate calcifications at various areas including the entire spine, sacrum, hands, feet, trachea, and thyroid cartilage. It is an apparently new syndrome of chondrodysplasia punctata (CP), quite distinct from the classic form (Conradi-Hünermann type), as well as the other well-defined forms of CP. We thus suggest the term chondrodysplasia punctata, humero-metacarpal (HM) type.

Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type.

The rhizomelic type of chondrodysplasia punctata (RCDP) is recognizable at birth because of the typical phenotype and radiological features. Most patients die young, some survive until their teens but all are severely retarded. Recent studies showed RCDP to be a peroxisomal disorder. Peroxisomal investigations may be important in defining the prognosis for an individual patient, and are definitely of use in antenatal diagnosis.

Severe pulmonary arterial stenoses in Conradi-Hünermann disease.

A 5-month-old male infant with chondrodystrophia punctata type Conradi-Hünermann showed electrocardiographically an increasing right ventricular hypertrophy. Echocardiographically an enormous enlarged right ventricle with signs of supra-systemic pressure was found. No other intracardiac defects could be seen. Angiography showed severe peripheral pulmonary arterial stenoses of both main arteries. Balloon-dilatation or surgical intervention was supposed to have no beneficial effect. At the age of 6 months the patient died.

[Chondrodysplasia punctata congenita: a genetic heterogenous disease]. / Chondrodysplasia punctata congenita: een genetisch heterogeen ziektebeeld.

Chondrodysplasia punctata congenita is an entity of genetic heterogeneity characterized by the presence of stippled epiphyseal and extra-epiphyseal calcifications in roentgenograms. There are at least three distinct types which differ in their mode of inheritance: the autosomal recessive, the X-linked dominant and the autosomal dominant type. Recently a mesomelic type has been recognized. Its mode of inheritance is not known. A case of chondrodysplasia punctata congenita is presented with its signs and symptoms. The pregnancy was complicated by a sepsis. The mother used several drugs. The classification of the child which died after two days is difficult; she probably belongs to the mesomelic type. The diagnosis chondrodysplasia punctata congenita is mainly based on radiological examinations.

[Chondroplasia punctata (author's transl)]. / Die Chondroplasia punctata.

The rare condition of chondroplasia punctata is illustrated by two patients. The very different manifestation and course of the disease in these two patients confirms Spranger et al's (1971) view that it is an heterogeneous disease which can be divided into two types. The rhizomelic type is characterised by well marked punctate cartilage calcification, shortening of the extremities, deformities of the metaphyses and epiphyses, frequent cataracts and a fatal outcome. In the Conradi-Hünermann-type the changes are less marked and the patients may survive. In order to classify the disease correctly, radiological examination in early childhood is desirable.

[New classification of bone dysplasias based on histogenetic changes]. / Nueva sistematización de las displasias óseas basada en las alteraciones de la histogénesis.

Several attempts have been made to classify constitutional diseases of ossification. The one from the Roman group is at present the most accepted. Based on histogenetic concepts and on conventional microscopic studies of our casuistics, we are proposing a new systematization of bone dysplasias considering the mechanisms that lead to the transformation of primitive bone tissue into adult bone tissue. Changes in bone histogenesis may take place at the following levels: 1. In the bones of connective ossification. 2. In the chondrocytic fertile cartilage. 3. In the bony trabeculae. 4. In the periosteum and endosteum. 5. In the bony fibrose tissue. Based on such changes, we classify bone dysplasias into: 1. Connective-dysplasias. 2. Chondro-dysplasias. 3. Trabecular-dysplasias. 4. Periosteo-endosteo-dysplasias. 5. Fibro-dysplasias. 6. Mixed types.

X-linked dominant chondrodysplasia punctata. Review of literature and report of a case.

X-linked dominant chondrodysplasia punctata is a syndrome consisting of skeletal, ocular, and cutaneous anomalies with asymmetric involvement of the body. The skin lesions, the hallmark of this condition, are distributed in a linear or blotchy pattern and include congenital ichthyosiform erythroderma, systematized atrophoderma mainly involving the hair follicles, and circumscribed alopecia. The remaining scalp hair is in part normal and in part irregularly twisted and coarse. The eyebrows and lashes are sparse. The nails may be flattened and split into layers. Thirty-five cases of this new syndrome are reviewed, and an additional observation is reported. The ratio of females to males is 36:0. The concept of X-linked dominant chondrodysplasia punctata has been suggested, and it has been postulated that there is a connection between the mosaic phenotype and the limitation to the female sex. Both facts would be explained by an X-linked gene giving rise to a pattern of lyonization in females, and lethal in hemizygous males. The classification of chondrodysplasia punctata thus includes three forms: the rhizomelic type, the Conradi-Hünermann type, and the X-linked dominant type. Two of these, the rhizomelic type and the X-linked dominant type, are well-defined entities. Whether the Conradi-Hünermann type, after separation of the X-linked form, is still heterogeneous, remains to be determined.

[Poly-epiphyseal dysplasia, probably autosomal recessive. Contribution of the ultrastructural study to the discovery of this autonomous form]. / Dysplasie poly-épiphysaire probablement récessive autosomique. Apport de l'étude ultrastructurale dans l'isolement de cette forme autonome

An ultrastructural study of growth cartilage permitted individualization of a particular form of polyepiphyseal dysplasia which differs clinically and radiologically only slightly from the dominant form. The main difference concerns the superior femoral epiphyses which are more flattened and spread out. Inclusions, probably of lysosomial origin and containing granulous or filamentous material, were observed. This aspect is different from that observed in the dominant form and consisting of swellings of the endoplasmic reticulum with a suggestion of a periodical structure. The mode of inheritance could not be firmly demonstrated. Some degree of consanguinity of the second patient's parents favours an autosomal recessive inheritance.