Skeletal dysplasia, broad short thumbs, and pectoral
and sternal deformities. Assess vertebral anomalies by radiologic
examination of spine. Spina bifida occulta may be present.
Acropectorovertebral Dysplasia; Opitz F Syndrome.
Incidence and Genetic Inheritance
Autosomal dominant. Fewer than
15 cases reported in the literature.
Skeletal dysplasia, broad short thumbs, distal
thumb phalanx duplication, thumb and index finger syndactyly, fused capitate
and hamate, syndactyly of toes, malformed toes. Pectoral and sternal
deformities. Vertebral anomalies and spina bifida occulta at L5 or S1.
Assess vertebral anomalies by radiologic
examination of spine. Because spina bifida occulta may be present, there is
an increased risk of dural puncture with lumbar extradural block.
No specific pharmacological
Other Condition to Be Considered
Grosse Syndrome (Cranioacrofacial Syndrome): Autosomal dominant
condition characterized by cardiac anomalies (ventricular septal defect,
pulmonic stenosis), narrow head and face, minor head anomalies, and
Grosse F, Herrmann J, Opitz JM: The F-form of acropectorovertebral
dysplasia: The F-syndrome. Birth Defects Orig Artic Ser 3:48, 1969.
Dundar M, Gordon TM, Ozyasgan I, et al: A novel acropectoral syndrome maps
to chromosome 7q36. J Med Genet
38: 304, 2001.
Camera G, Camera A, Pozzolo S, et al: F-Syndrome (F-form of
acropectoro-vertebral dysplasia): Report on a second family. Am J Med Genet
Genetically transmitted lysosomal storage disorder
caused by a deficiency in α-galactosidase and characterized by an
accumulation of substrate in many organs and tissue resulting in progressive
neurologic and vascular degeneration.
Angiokeratomata on the eyelids in a patient with Fabry disease.
Angiokeratoma Corporis Diffusum; Anderson-Fabry Disease;
Alpha-Galactosidase A Deficiency.
Second most prevalent metabolic storage disorder.
Gaucher disease being the most prevalent. Incidence is 1:117,000 live births.
Transmission is recessive and X-linked. Men
are affected, but women carriers can present symptoms of the disease.
Lack of α-galactosidase A leads to
intracellular accumulation of its substrate globotriaosylceramide. This
defect leads to severe painful neuropathy with progressive renal,
cardiovascular, and cerebrovascular dysfunction and finally death.
Diagnosis is clinical and biochemical. The clinical
signs indicating Fabry disease are the presence of angiokeratomas in the
skin and mucous membrane and benign corneal ...