Changing phenotype in Floating-Harbor syndrome

Abstract

We report on a girl with Floating-Harbor syndrome, trigonocephaly due to metopic suture synostosis, preauricular pit, hypoplastic thumb, subluxated radial head, and Sprengel deformity. A review suggests that trigonocephaly may be an important craniofacial manifestation in this syndrome that is recognizable in infancy. With time, this finding appears to become less noticeable, and the face develops a triangular shape, accentuated by a broad and bulbous nose.

The phenotype of Floating–Harbor syndrome in 10 patients

“…Skeletal abnormalities were common in this study: in particular, hip dysplasia, and hand dysmorphism (brachydactyly, clinodactyly, clubbing) were helpful diagnostic features. Most patients had abnormal hands albeit with variable features and this was also noted in previous reports [Leisti et al, 1974; Robinson et al, 1988; Chudley and Moroz, 1991; Majewski and Lenard, 1991; Houlston et al, 1994; Lacombe et al, 1995; Hersh et al, 1998; Wieczorek et al, 2001; Feingold, 2006; Stagi et al, 2007].…”

“…Previous case reports have documented behavioral issues in FHS including one patient with attention problems [Ala‐Mello and Peippo, 1996] and two meeting diagnostic criteria for ADHD [Ioan and Fryns, 2003; Hersh et al, 1998]. This study raises the possibility of a behavioral phenotype encompassing clinical features of ADHD, which compounds the communication and intellectual deficiencies of this patient group.…”

“…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]. The diagnosis remains clinical, and can be difficult given the high frequency of speech delay, short stature, and minor anomalies in children referred for syndrome diagnosis.…”

Floating‐Harbor syndrome complicated by tethered cord: A new association and potential contribution from growth hormone therapy

“…The face is typically triangular with a prominent or bulbous nose, deep-set eyes, long eyelashes, wide columella, short smooth philtrum and short/thin upper lip [Robinson et al, 1988;Patton et al, 1991]. Other problems include feeding difficulties, fifth finger clinodactyly, finger clubbing, clavicular pseudarthrosis, celiac disease [Chudley and Moroz, 1991], and a high-pitched voice [Patton et al, 1991;Hersh et al, 1998]. Structural malformations have also been described, including congenital heart disease [Patton et al, 1991;Lazebnik et al, 1996] and genito-urinary anomalies [Pelletier and Feingold, 1973;Leisti et al, 1974].…”

Clinical Characteristics and Surgical Decision Making for Infants with Metopic Craniosynostosis in Conjunction with Other Congenital Anomalies

“…18,19 Trigonencephaly has been associated with syndromes such as Saethre-Chotzen, 20,21 Opitz C trigonencephaly syndrome, 22–24 Say-Meyer trigonencephaly syndrome, 25 Christian syndrome, 26 and Floating-Harbor syndrome. 27 It has also been associated with several chromosomal anomalies such as Jacobsen syndrome (del 11) 28–31 among others. 32–37 …”