Ellis-van Creveld Syndrome Research Articles

Diagnosis of fetal skeletal dysplasias with ultrasound

In 1977 we reported the in utero diagnosis of a skeletal dysplasia, chondroectodermal dysplasia. Since then we have used ultrasound to examine 66 pregnant women who were at risk for fetal skeletal dysplasia. In an effort to establish a normal curve for long bone length, the femurs and, in some cases, humeri, of 57 normal second-trimester fetuses were measured by real-time ultrasound. In addition, femur and humerus measurements were obtained in 50 abortuses by means of ultrasound in a waterbath and were compared with blindly obtained extemal measurements of the same long bones. Mean in vivo ultrasound measurements of fetal femur and humerus were consistently less than mean ultrasound waterbath measurements by 16%. External measurements of the femur and humerus of abortuses were in concordance with water-bath ultrasound measurements in the same abortuses until 18 weeks, after which the means progrssively diverged to a difference of 17% at 25 weeks, with the ultrasound measurements being smaller. Based on the above in vivo normative ultrasound data, a positive diagnosis was made in five of seven second-trimester fetuses at risk for a skeletal dysplasia (camptomelic dysplasia, two fetuses with Roberts syndrome, diastrophic dysplasia, and thrombocytopenia with absent radii syndrome). In two others (chondroectodermal dysplasia and osteogenesis imperfecta) long bone measurements were diminished, but not outside 95% confidence levels, and the diagnosis was based on fetoscopy findings and identification of a femoral fracture. All other fetuses were normal at birth following negative ultrasound evaluation. The study demonstrates the feasibility of diagnosing various skeletal dysplasias with ultrasound. Further study will be required before the accuracy of diagnosis in all dysplasias can be fully assessed.

A case of Majewski Syndrome with pathoanatomic examination

A case of Majewski Syndrome is described with roentgen and pathoanatomic examination including proximal and distal epiphyses. Dysplastic involvement of all the embryonic tissue layers is demonstrated. The microscopic involvement of the bone appears to be similar to that described in the Ellis-Van Creveld syndrome, but is generally more pronounced. An autosomal recessive inheritance is assumed for this syndrome. Differentiation from other types of short-rib polydactyly syndromes is discussed.

APPLICATION OF ULTRASOUND AND FETOSCOPY TO PRENATAL DIAGNOSIS

Anatomic description of the fetus in utero would permit diagnosis of many birth defects which at present are not defined by biochemical or cellular abnormalities. We have used ultrasonoggraphy for indirect definition and fetoscopy for direct viewing of fetal anatomy in the attempt to establish or exclude the presence of certain morphologic abnormalities in the second trimester. Three pregnancies at risk for recessively inherited Eilis-van Creveld syndrome were examined with grey scale and real time (B scan) ultrasound to measure limb lenghts, and with fetoscopy to look for polydactyly. In two of the pregnancies limb lengths were normal. Fetoscopy showed a normal foot of the first fetus and a normal hand of the second. The first pregnancy hae given birth to a normal term infant and the second continues without problem. In the third pregnancy a fetal hand with six digits was seen with the fetoscope; in addition, ultrasound lengths of a humerus and femur were significantly shorter (p<.001) than direct postmortem measurements from control fetuses. Ellis-van Creveld syndrome was confirmed after elective abortion. We examined one pregnancy at risk for recessive tetraphocomelia (Robert syndrome) with ultrasound; limb lengths and movements were normal and the pregnancy continues. Ultrasound measurements of fetal kidney and bladder size were normal in three pregnancies where previous newborns had died with Potter syndrome and aplastic kidneys; two normal infants have been born and one pregnancy continues. (Sponsor: Leon E. Rosenberg)

The pathological anatomy of surgically reconstructable or prosthetically correctable congenital valvular malformation of the mitral region.

The special pathology of reconstructable or only prosthetically correctable congenital malformations of the mitral valve is described on the basis of the following examples taken from our own operative and autopsy material of the last 5 years: 1. Congenital isolated mitral stenosis in female twins (7 month old infant and 33 month old child). 2. Congenital isolated mitral insufficiency in a 7 1/2 year old boy. 3. Combined mixed mitral valve malformations with a parachute valve-like mitral valve anomaly, combined with hypoplasia of the ascending and descending aortas, in a 6 1/2 year old girl. 4. Congenital mitral insufficiency with a parachute mitral valve, combined with supravalvular aortic stenosis and multiple peripheral stenoses of the pulmonary arteries in a 13 1/4 year old boy. 5. Insufficiency of the mitrally inverted tricuspid valve with so-called corrected transposition of the great vessels in a 6 year old boy and with Ebstein's anomaly in a 2 1/2 year old boy. 6. A second mitral ostium in the aortic mitral leaflet with a partial atrioventricular canal in a 6 3/4 year old girl with Ellis-van Creveld syndrome. 7. Bland-White-Garland syndrome with relative mitral insufficiency in a 5 month old and a 4 month old boy. Despite the recurrence of similar and comparable findings, each of our cases of congenital or early acquired noninfectious mitral valve malformation was formally different. n his was also true for the cases of congenital isolated mitral stenosis in twins. Therefore, surgical correction requires a unique procedure for each case. It is possible to reliably infer the degree of malfunction of the atrioventricular valve in a mitral position from the special pathology only by considering the clinical data. On the other hand, a detailed evaluation of congenital mitral valve malformations is possible only through direct inspection--either by the surgeon or through an autopsy--despite modern cardiodiagnostic methods. Typical secondary findings are also discussed--for instance, endocardial fibrosis of the left atrium and the configuration of the heart. The anatomical prerequisites for surgical reconstruction or replacement of the valve with a prosthesis are mentioned.

The Ellis-van creveld syndrome in an infant

An infant with Ellis-van Creveld syndrome is reported. The characteristic symptoms in this age represented. It shows some peculiarities in regard to the body length. and the ectodermal dysplasy.

Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.

Four examples of short rib-polydactyly syndromes are described. Case 1 represents the Majewski type, and the other three are examples of the Saldino-Noonan type. Both conditions are true multiple congenital anomaly syndromes and neonatally lethal forms of dwarfism with a narrow thorax, polydactyly and associated visceral malformations. They are probably caused by the homozygous state of different autosomal recessive genes. They must be differentiated from similar conditions such as chondroectodermal dysplasia, asphyxiating thoracic dysplasia, the Meckel syndrome and the trisomy 13 syndrome.

Difficulties in differentiation between chondroectodermal dysplasia (Ellis--van Creveld syndrome) and asphyxiating thoracic dystrophy.

SummaryTwo cases of Ellis van Creveld syndrome– one with normal, one with elongated narrow thorax–and two cases of Asphyxiating Thoracic Dystrophy–a localised form and a generalised mild form are described.The morphological differences and similarities in Ellis van Creveld syndrome and Asphyxiating Thoracic Dystrophy syndromes are described and the mutual relationship of both diseases is discussed.

Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies.

SEVERE THORACIC DYSTROPHY WITH STRIKING MICROMELIA, ABNORMAL OSSEOUS DEVELOPMENT, INCLUDING THE SPINE, AND MULTIPLE VISCERAL ANOMALIESRONALD M. SALDINO, M.D. and CHARLES D. NOONAN, M.D.Audio Available | Share

Ellis-van Creveld Syndrome

Two siblings had the Ellis-van Creveld syndrome and previously undescribed anomalies: common atrium with hypoplastic left ventricle, aortic atresia, hypoplastic ascending aorta, and dilated renal tubules. Hydrocephalus was present in one sib. The syndrome is noted to involve dysplasia of all embryonic tissue layers.

Chondroectodermal dysplasia (Ellis-van creveld syndrome). Case report.

Summary A typical case of the Ellis-van Creveld syndrome is reported, presenting all the classical features of the syndrome. Notably, there is widespread involvement of the ectoderm and mesoderm manifesting as dwarfism, deficiencies in hair and teeth, together with Polydactyly of the hands, and fusions and deformities in many bones. The recognition of this syndrome is important as it is commonly mistaken for other forms of dwarfism, particularly achondroplasia.

The carpals in congenital malformation syndromes.

A variety of carpal anomalies may occur in the congenital malformation syndromes. These include the presence of extra carpals, abnormal carpals, and abnormalities of the carpal angle. Carpal fusion which affects carpals in different rows also has some significance, as do variations in maturational sequence. In some syndromes an increased incidence of anatomic variation may be found. The lack of good normal standards of carpal size and configuration and the lack of statistical data on the normal variability of these bones make evaluation subjective in most cases.Syndromes associated with carpal anomalies include arthrogryposis, diastrophic dwarfism, dyschondrosteosis, Ellis-Van Creveld syndrome, epiphyseal dysplasia, Fanconi’s anemia, Hand-Foot-Uterus syndrome, Holt-Oram syndrome, homocystinuria, OtoPalato-Digital syndrome, symphalangism, Trisomy 18, and Turner’s syndrome.

Ellis-van Creveld syndrome.

Ellis-van Creveld syndrome.

Perinatal leukemia with apossible variant of the Ellis-van Creveld syndrome

Summary A case of perinatal leukemia with a possible variant of the Ellis-van Creveld syndrome is presented. A newborn boy with scaphocephaly, sagittal craniosynostosis, recurved pinna, hypoplastic upper lip, natal teeth, short ribs and extremities, absent breast areolae, bilateral cryptorchism, and a normal karyotype died of acute myeloblastic leukemia at 34 days of age. This association is previously unreported.

Oral manifestations of the Ellis-van Creveld syndrome

Partial anodontia, a dystrophic phiitrum, and malocclusion are among the deviations that were seen in five Amish chil dren with this hereditary disease.

Ellis-Van Creveld syndrome.

To the Editor.—In the August 1967 issue, a case is reported of the Ellis-Van Creveld syndrome well documented by Drs. Gellis and Feingold. The pelvis, as shown in the radiograph, shows clearly an anomaly which H. J. Kaufmann (The Pelvis in the Ellis-Van Creveld Syndrome,Ann Radiol, out of series number 8, p 146, 1965) has pointed out: an indentation of the acetabulum, giving the aspect trident of the roof of the acetabulum. This formation is reversible as the patient grows. It is also seen in other conditions described by my colleague, Professor Jeune of Lyons: The two conditions have certain features in common (Monnet, M.P., and Monnet, F.: Le syndrome d'Ellis-Van Creveld,Rev Lyon Med16:47, 1967), especially the thorax en guepe or hemithoracic constriction which is clearly seen in your good picture.

Congenital heart disease and chondroectodermal dysplasia. Report of two cases, one in a Negro.

SINCE THE first full description of the syndrome by Ellis and van Creveld 1 in 1940, chondroectodermal dysplasia has been reported in at least 103 persons. 2-6 While the syndrome has been noted most frequently in whites, 2-6 only one instance has been reported in a Negro who also had congenital heart disease. 7 McKusick et al 3 referred to three Negro families with Ellis-van Creveld syndrome, but did not mention whether there was associated heart disease. The purpose of this paper is to report two new instances of the syndrome, one of these being the second example of Ellis-van Creveld syndrome associated with heart disease in a Negro, and to review the types of cardiac malformations associated with chondroectodermal dysplasia. Report of Cases Case1.—This Negro boy was born to a 20-year-old gravida I woman after a full-term uncomplicated pregnancy. His birth weight was 3,300 gm (7 lb 4

Infantile thoracic dystrophy—a variant of Ellis-Van Creveld syndrome

Infantile thoracic dystrophy, a generalized skeletal dystrophy with major manifestations in the thoracic cage, is unfamiliar to American pediatricians, although rather well known in Europe and among pediatric radiologists. This report includes 4 new cases (2 pairs of brothers) and summarizes the previously reported cases. Roentgenographic findings are described and differential diagnosis outlined. This entity appears to be a variant of the Ellis-Van Creveld syndrome.

ELLIS‐van CREVELD SYNDROME

An autopsy case of chondroectodermal dysplasia (Ellis‐van Creveld syndrome) was reported, in which the four major features (chondrodysplasia, ectodermal dysplasia, polydaktylia and heart anomaly) were all present. Cause of death was attributed to the congenital cardiac anomaly (cor triloculare biventriculare). No consanguity between parents was proved. Roentgenologic and histopathologic findings of the bone were described.

Chondroectodermal dysplasia (Ellis-van Creveld syndrome). Report of two cases from Saudi Arabia.

Chondroectodermal dysplasia (Ellis-van Creveld syndrome). Report of two cases from Saudi Arabia.

163. Surgical treatment of the single atrium and the recognition of the Ellis-van Creveld syndrome in the cardiac surgery

163. Surgical treatment of the single atrium and the recognition of the Ellis-van Creveld syndrome in the cardiac surgery