Extensive Facial Clefting in a Patient With Goltz Syndrome: Multidisciplinary Treatment of a Previously Unreported Association

Abstract

Goltz syndrome is a rare, X-linked dominant, multisystem disorder found almost exclusively in female patients. Although the cutaneous features predominate in most reports, characteristic abnormalities are also frequently present in the musculoskeletal system and facial region. We report a female infant born with a severe form of Goltz syndrome that included an extremely wide facial cleft, an abnormality not previously reported in a patient with this disorder. Her management demonstrates the advantages of a multidisciplinary approach to effectively care for patients with severe craniofacial abnormalities.

Atypical facial clefting in a patient with Goltz syndrome

“…Goltz syndrome is a well‐known X‐linked condition with defects of the skeleton, eyes, soft tissues, and skin [Gorlin et al, 2001]. Oblique and complex facial clefting is an unusual association and has been previously reported in two girls with a severe phenotype [Han et al, 2000; Ascherman et al, 2002]. We have seen a girl with a severe form of Goltz syndrome associated with wide facial clefting.…”

Focal Dermal Hypoplasia with Unusual Cutaneous Features

“…These include agenesis or dysplasia of the teeth, enamel defects, high arched palate and absence of the labial sulcus. Only four FDH patients with cleft lip have been previously reported (16–19). Different presentations include a bilateral cleft lip and palate, an incomplete transverse facial cleft, a transverse facial cleft and an extensive right facial cleft involving the orbit, the maxilla, the nasal and the oral cavities.…”

Differential diagnosis of cartilaginous dysplasia and probable Osgood-Schlatter's disease in a Mississippian individual from East Tennessee

“…However, the dermal abnormalities are also associated with several skeletal anomalies. Generalised skeletal asymmetry, absence of digits, polydactyly, ectrodactyly (lobster‐claw malformation), absence of an extremity, scoliosis (20%), spina bifida occulta, clavicular dysplasia, pointed mental eminence, microcephaly, vertebral segmentation defects, hypoplasia of the facial skeleton, short stature and long striations in the metaphyses of long bones in radiographs are all characteristic (Boothroyd & Hall, 1988; Ascherman et al ., 2002; Riyaz et al ., 2005; Jones, 2006). Additionally, typical features include several dental anomalies, including anodontia, hypodontia, oligodontia, microdontia, enamel hypoplasia, late eruption, irregular placement, malocclusion, enamel fragility and notched incisors (Riyaz et al ., 2005; Jones, 2006; Rodini et al ., 2006).…”

“…Additionally, typical features include several dental anomalies, including anodontia, hypodontia, oligodontia, microdontia, enamel hypoplasia, late eruption, irregular placement, malocclusion, enamel fragility and notched incisors (Riyaz et al ., 2005; Jones, 2006; Rodini et al ., 2006). In rare cases, severe facial clefting may be present as well (Ascherman et al ., 2002; Rodini et al ., 2006). When present in males, the syndrome is typically fatal and therefore is most often seen in females (Ascherman et al ., 2002).…”

“…In rare cases, severe facial clefting may be present as well (Ascherman et al ., 2002; Rodini et al ., 2006). When present in males, the syndrome is typically fatal and therefore is most often seen in females (Ascherman et al ., 2002).…”