Say syndrome: A new Brazilian case

Guion‐Almeida, Maria Leine; Kokitsu-Nakata, Nancy Mizue; Zechi, R.M.

doi:10.1590/s1415-47571998000400007

Cited by 3 publications

(3 citation statements)

References 3 publications

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“…The original case report published in 1975 (10) described two of the four subjects as having bilateral acromial dimples. None of the reported cases that followed reported a similar occurrence of acromial dimples (11)(12)(13).…”

Section: Discussionmentioning

confidence: 99%

Bilateral Acromial Dimples: A Case Report and Review of the Literature

Debosz

Haber

2012

Pediatric Dermatology

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Bilateral acromial dimples are uncommon in pediatric dermatology. They are usually found as a sporadic finding with limited clinical symptoms but may cause concern for parents. They can occur spontaneously or be inherited. Bilateral acromial dimples may occasionally be present as part of more complex syndromes. This article reports an 18-month-old girl with congenital bilateral acromial dimples and presents a classification of this unusual entity. A literature review of English and non-English publications was performed. We report the second case of bilateral acromial dimples seen in the context of maternal cocaine use during pregnancy. Our case is probably sporadic and nonsyndromal. We suggest that bilateral acromial dimples be classified as syndromal or nonsyndromal and that nonsyndromal cases be subdivided into inherited and sporadic. Although bilateral acromial dimples can be seen in 18q deletion syndrome, Apert syndrome, Say syndrome, and a recently described syndrome in Brazil, our review of the literature does not support the association with trisomy 9 syndrome. Dermatologists need to be aware of this unusual cutaneous finding and potential syndromal associations. The significance of the association with fetal exposure to cocaine during pregnancy has yet to be determined. The biological mother was not available for assessment for bilateral acromial dimples.

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Section: Discussionmentioning

confidence: 99%

Bilateral Acromial Dimples: A Case Report and Review of the Literature

Debosz

Haber

2012

Pediatric Dermatology

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“…Cystic renal dysplasia and proximal renal tubular acidosis have been noted [13]. Cerebral anomalies and seizures have been noted in a case report by Guion-Almeida et al [14].…”

Section: Unilateral Acromial Dimple In An Infantmentioning

confidence: 93%

Unilateral acromial dimple in an infant: A case report and review of the literature

Vasireddy¹,

Malayala²,

Atluri³

2021

IJCR

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Skin depressions overlying the area of the acromion process of the scapula area called acromial dimples.They are rare in occurrence and usually tend to be bilateral and bilateral acromial dimples have been described in the literature [2]. A unilateral acromial dimple has not been published in literature. It is suspected that they arise due to tissue entrapment between a sharp bony process and the uterine wall [1]. It is not completely understood how the entrapment can occur symmetrically. It may cause restriction of movement of shoulders. Autosomal dominant inheritance of bilateral acromial dimples has been reported [3,4]. They can either be an isolated finding or be part of a syndrome. We present a case of a unilateral acromial dimple in an infant which seems to be sporadic and non syndromic in occurrence.

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“…Signs observed only in their propositus were sparse scalp hair, hypospadias, delayed bone age, hypotonia, and delayed development. This phenotype was later named Say syndrome [Emery and Rimoin, 1990], and 3 additional reports were published [Abu-Libdeh et al, 1993;Ashton-Prolla and Félix, 1997;Guion-Almeida et al, 1998], all of isolated cases (with one case of discordance in monozygotic twins), referred to as probable new mutations.…”

Section: Introductionmentioning

confidence: 99%

Say syndrome: Report of a familial case

1999

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We describe a new case of Say syndrome. This syndrome is an autosomal dominant condition characterized by cleft palate, short stature of prenatal onset, large protruding ears and microcephaly, delayed bone age, and renal anomalies. The first report was in 1975 by Say et al. in three generations of a family. Three additional reports of isolated cases were published. Our propositus is a 12-month-old boy with the cardinal signs of the syndrome whose mother has only microcephaly. To our knowledge this is the second familial report with evidence of highly variable expressivity. The occurrence of renal anomalies in a son of a normal sister of his mother suggests incomplete penetrance.

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Say syndrome: A new Brazilian case

Cited by 3 publications

References 3 publications

Bilateral Acromial Dimples: A Case Report and Review of the Literature

Bilateral Acromial Dimples: A Case Report and Review of the Literature

Unilateral acromial dimple in an infant: A case report and review of the literature

Say syndrome: Report of a familial case

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