Ellis‐Van Creveld Syndrome Report of Two Cases in Siblings

Abstract

Summary 1. Two cases of the Ellis‐Van Creveld syndrome are presented. These are the first cases reported in siblings. 2. It is suggested that strabismus, pseudo‐hairlip, and changes in metacarpal ossification centers are additional, though less frequent components of the syndrome. 3. Ecto‐mesodermal dysplasia is proposed as a more descriptive name for this syndrome. Le syndrome dapos;Ellis‐Van Creveld. Rapport sur deux cas chez des enfants de memes parents. Présentation de deux cas de syndrome dapos;Ellis‐Van Creveld. Ce sont les deux premiers cas rapportés sur des enfants de memes parents. II a été supposeé que le strabisme, le pseudo bec‐de‐lièvre et les changements dans les centres de lapos;ossification métacarpienne sont des composants supplémentaires du syndrome, bien qu'ils soient moins fréquents. On a proposé d'appeler ce syndrome: dysplasie de l'ecto‐mésoderme, étant un mon plus descriptif. Das Ellis‐ Van Creveldsche Syndrom. Bericht über zwei Fälle bei Geschwistem. Zwei Fälle von Ellis‐Van Creveldschem Syndrom werden besehrieben. Diese sind die ersten bei Geschwistern, iiber die berichtet wird. Die Ansicht wird ausgesprochen, dass Strabismus, Pseudohasenscharte und Veränderungen in metakarpalen Ossifikationszentren zusätzliche, wenn auch weniger häufige Bestandteile des Syndroms sind. Ekto‐mesodermale Dysplasie wird als ein, dieses Syndrom besser beschreibender Name, vorgesehlagen. Casuística del síndrome de Ellis‐Van Creveld en dos descendientes directos. Se exponen dos casos de síndrome de Ellis‐Van Creveld. Son éstos los primeros registrados en descendientes directos. Se sugiere que el estrabismo, el seudo labio leporino y los cambios en los centros de osificación metacarpiana, son constitutivos adicionales de este sindrome, aunque menos frecuentes. Se propone para este síndrome el nombre más descriptivo de displasia ectomesoderma.

Ellis-van Creveld syndrome in identical twins.

“…Its manifestations include sparsity of the hair, dystrophy of the fingernails, malformations of the teeth, absent gingival sulcus, hare-lip, epiand hypospadias, and mental retardation (Caffey, 1952;Darling et al, 1957;Mitchell and Waddell, 1958). In our patients, there were no manifestations of ectodermal dysplasia.…”

“…It has been described in families with consanguinity (Metrakos and Fraser, 1954;Mitchell and Waddell, 1958), in brothers (Keizer and Schilder, 1951;Debre et al, 1955;Alvarez-Borja, 1960), and in one case of dizygotic twins (Metrakos and Fraser, 1954). Chromosomal examinations have until now been normal.…”

“…Although a congenital malformation of the heart is a part of the syndrome, cases without this have been reported (Caffey, 1952;Metrakos and Fraser, 1954;Mitchell and Waddell, 1958;Alvarez-Borja, 1960). Often, however, when heart disease was present, precise diagnosis was not established.…”

“…Often, however, when heart disease was present, precise diagnosis was not established. Mitchell and Waddell (1958) were the first to report a pair of sibs who had been completely studied. Metrakos and Fraser (1954) described two cases in sibs and two in dizygotic twin brothers.…”

Chondroectodermal Dysplasia (Ellis-van Creveld Syndrome)

“…All 11 Metrakos & Fraser (1954) 12 Metrakos & Fraser (1954) 13 Metrakos & Fraser (1954) 14 Metrakos & Fraser (1954) 15 Metrakos & Fraser (1954) 16 MacGregor (1954) 17 Chauss (1955) 18 Weiss & Crosett (1955) 19 Turner (1956) 20 Akoun & Bagard (1956) 21 Weyers (1956) 22 Weyers (1956) 23 Parental consanguinity was present in 9 of the 25 families reported, whereas in the general population it is present in about 1 out of 100 families. It is assumed, there¬ fore, that the frequency of consanguinity in the present study is not due to chance.…”