A Further Report on a Case of Floating-Harbor Syndrome in a Mother and Daughter

Abstract

We present the most extensive neuropsychological and language assessment yet reported of patients diagnosed with Floating-Harbor Syndrome (FHS), a rare genetic condition characterized by dysmorphid figures, short stature, and speech-onset delay. This is also the second reported occurrence of both a mother and daughter with FHS. Whereas the child demonstrated gross deficits in verbal expression, speech and language problems were largely ameliorated in the mother. Neuropsychological assessment also revealed a strikingly similar pattern of cognitive problems additional to language dysfunction, including difficulties with attention, mathematical, and visuospatial abilities. A mood disorder continued to be quite disabling for the mother.

The phenotype of Floating–Harbor syndrome in 10 patients

“…The original case reports of FHS defined the cardinal features of the condition: speech delay, short stature, delayed bone age, and dysmorphism [Pelletier and Feingold, 1973; Leisti et al, 1974]. In reviewing the literature of FHS, we have omitted several reports because the diagnosis was not able to be confirmed based on the clinical features and photographs provided [Davalos et al, 1996; Fryns et al, 1996; Lazebnik et al, 1996; Smeets et al, 1996; Rosen et al, 1998; Cannavo et al, 2002; Penaloza et al, 2003; De Benedetto et al, 2004; Karaer et al, 2006]. In 27 individuals with FHS published after the original reports, the diagnosis appears certain based on the details in the case report [Zabransky, 1985; Robinson et al, 1988; Chudley and Moroz, 1991; Majewski and Lenard, 1991; Patton et al, 1991; Houlston et al, 1994; Lacombe et al, 1995; Ala‐Mello and Peippo, 1996; Hersh et al, 1998; Wieczorek et al, 2001; Ioan and Fryns, 2003; Ala‐Mello and Peippo, 2004; Wiltshire et al, 2005; Stagi et al, 2007; Paluzzi et al, 2008].…”

Search for a gene responsible for Floating‐Harbor syndrome on chromosome 12q15q21.1

“…The facial dysmorphism is most prominent during mid‐childhood [Hersh et al, 1998; Feingold, 2006]. The majority of reported cases appeared to be sporadic but a few familial cases, with predominantly autosomal dominant inheritance, have been reported [Lacombe et al, 1995; Rosen et al, 1998; Peñaloza et al, 2003]. These data do not permit to use linkage mapping as a tool for identification of the disease gene.…”

Floating‐Harbor syndrome associated with middle ear abnormalities

“…Two reports mention recurrent ear infections [Robinson et al, 1988;Ala-Mello and Peippo, 2004], which in at least one case were managed by grommet placement. There is another report on otitis media with effusion for which myringotomy was performed [Rosen et al, 1998]. The latter report also mentions a mild sensorineural hearing loss in an adult with Floating-Harbor syndrome.…”

“…The specific genetic or molecular cause is not known. Two separate reports show a transmission from mother to daughter [Lacombe et al, 1995;Rosen et al, 1998], suggesting an autosomal dominant or mitochondrial inheritance.…”

“…Only three reports mention otological symptoms and hearing acuity [Robinson et al, 1988;Rosen et al, 1998;Ala-Mello and Peippo, 2004]. The present article describes middle ear anomalies as part of a bilateral mixed hearing loss in a patient with FloatingHarbor syndrome.…”