The ECP syndrome, another autosomal dominant cause of monodactylous ectrodactyly

Opitz, John M.; Frías, Jaime L.; Cohen, M. M.

doi:10.1007/bf00496079

Cited by 19 publications

(13 citation statements)

References 11 publications

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“…Associated prune belly syndrome was reported by Ivarsson et al (1982). Opitz et al (1980) studied a family with what they designated the ECP syndrome since affected patients had only cleft palate without cleft lip, and split hand/foot without any of the other manifestations of the EEC syndrome. Other reports by various authors confirmed the clinical features, the autosomal dominant inheritance and variable expressivity and penetrance (Schmidt and Nitowsky, 1977;Aldenhoff et al, 1978;Wiedemann and Dibbern, 1980;Mucke and Sanding, 1980;Lewis and Pashayan, 1981;Frediani and Zaltron, 1981;Trigo, 1982).…”

mentioning

confidence: 99%

The Genetics of Hand Malformations: Updated*

Temtamy¹

1985

Congenital Anomalies

129

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The main values of our knowledge of the genetics of birth defects are proper diagnosis and counseling. A classification of hand malformations on anatomic and genetic grounds was proposed by Temtamy (1966), Temtamy and McKusick (1969, 1978): The ten main categories are (1) Absence, (2) Brachydactyly, (3) Syndactyly, (4) Polydactyly, (5) Symphalangism, (6) Arachnodactyly, (7) Macrodactyly, (8) Carpal/Tarsal synostosis, (9) Congenital ring constrictions, and (10) Contractures. The hand malformation is either isolated or associated with other organ malformation as a part of syndromes. In the monograph by Temtamy and McKusick (1978), numerous new syndromes were identified, some of which were based on single or few observations. The paper summerizes the pertinent findings in a computerized literature survey of absence or deficiency malformation as part of synderomes reported between 1977 and 1983. Analysis of the literature confirmed the identity of previously reported syndromes and added “new” entities. The originally proposed classification of hand malformations proved to be useful and allowed for easy sorting out of the recent literature and for indentification of new syndromes.

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confidence: 99%

The Genetics of Hand Malformations: Updated*

Temtamy¹

1985

Congenital Anomalies

129

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“…Ectrodactyly-cleft palate syndrome is a condition described based on a single large family presenting ectrodactyly and cleft palate, without other clinical manifestations described in EEC syndrome 7 . It is noteworthy that, despite the description of oral clefts, these are limited to the palate in ECP syndrome, 7 different from our patient, that had involvement of the lip (Table 1). …”

Section: Discussionmentioning

confidence: 68%

Irmãos Afetados Pela Síndrome De Ectrodactilia, Displasia Ectodérmica E Fissura Labiopalatal (Eec) Com Pais Hígidos: Mosaicismo Germinativo?

Rosa

Moraes

Sulczinski

et al. 2017

Rev. paul. pediatr.

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Objective: EEC is an acronym for an autosomal dominant syndrome clinically characterized by ectrodactyly (E), ectodermal dysplasia (E) and cleft lip/palate (C). Our aim was to describe a rare case of siblings affected by ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome presenting normal parents. Case description: The patient was the third son of young and healthy parents. The parents did not present any minor or major anomaly of hands, feet or skin, hair and teeth. The couple had a previous history of two children with hands and feet malformations similar to the present patient. The first was a stillborn, and the second one a preterm infant that died in the first days after birth due to the consequences of prematurity. After birth, the patient presented respiratory distress with need of endotracheal intubation and mechanic ventilation. At physical examination, there were cleft lip/palate, hands and feet ectrodactyly, with absence of the second and third fingers in both hands, and reduction defects affecting mainly the second toes. The child presented pneumothorax and cardiorespiratory arrest and died at 1 month and 26 days.Comments: Herein we described a case of siblings with EEC syndrome, indicative of a germline mosaicism. In the literature review, there was the description of only three similar reports. The present case strengthens the possibility that germline mosaicism may be a more common inheritance mechanism than previously thought in cases of EEC syndrome.

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“…Cleft palate and ectrodactyly without any of the other manifestations seen in the EEC syndrome were reported as an autosomal dominant trait in a large family by Opitz et al [1980]. They named this condition the ECP syndrome, and concluded that though pleiotropic, it was apparently not very complex.…”

Section: Discussionmentioning

confidence: 93%

“…However, additional signs always raise the question of a new syndrome vs. the extended spectrum of a recognized syndrome [Johnson et al, 1974;Opitz et al, 1980;Lewis and Pashayan, 1981;Hartsfield et al, 1984, RichieriCosta et al, 1986; Richieri-Costa and Orquizas, 19871. The clinical signs of the present patient are clearly distinct from those of known syndromes involving clefting-ectrodactyly, as well as known clefting conditions associated with growth retardation and abnormal pinnae.…”

Section: Discussionmentioning

confidence: 99%