On general examination patient may have intra cerebral calcifications,
arachnodactyly, increased susceptibility to infections and mental retardation.3 The prevalence of this disease is 1 to 4 per million people.
Arachnodactyly, as defined in one or more of the followings: (i) positive wrist sign (Steinberg sign) on both sides; (ii) positive thumb sign (Walker sign) on both sides 10.
He was tall and slender (body weight: 58 kg; height: 183 cm; BMI: 17.3 kg/cm2) with
arachnodactyly which is considered as a marfanoid habitus.
Haim-Munk syndrome It is a rare autosomal recessive genodermatosis characterized by palmoplantar hyperkeratosis, onychogryphosis,
arachnodactyly and acroosteolysis.
Craniosynostosis, dolichostenomelia, proptosis, low-set ears,
arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hyperextensibility or contractures, hydrocephalus, dilatation of lateral ventricles, Chiari 1 malformation may be seen in this syndrome.
The proband (individual II: 2) was a 29-year-old woman who presented typical marfanoid cardiovascular features, facial features, and
arachnodactyly, but without ectopia lentis.
Physical examination showed clubfoot, low-set ears with dysplastic lobes and dysmorphic antihelix, anteverted nostrils,
arachnodactyly, low-set thumbs, bilateral clinodactyly of 5th finger of the hands, and varus foot.
On physical examination, the patient with the long-facial appearance had high-arched palate, long limbs and legs, purple-guinea-colored transverse striae of back,
arachnodactyly, genu recurvatum, joint laxity, hypermobility, pes planus, scoliosis, and pectus excavatum.
Subsequently, several anomalies were evidenced: narrow palate, pectus excavatum, recurrent hernias,
arachnodactyly, general marfanoid physical aspect, and joint laxity with a high degree of elbow extension, besides cardiac and ocular anomalies.
Her fingers and toes appeared elongated (
arachnodactyly), although lengths were not objectively measured, and her thumb held abducted (see Figure 1).
The limb abnormalities after VPA exposure may include pre- and postaxial polydactyly, overlapping digits, talipes (clubfoot), clinodactyly,
arachnodactyly, hip dislocation, limb deficiencies, preaxial and postaxial polydactyly, reduction malformations of the arms and hands and radial ray defects19,20 .
Primary affection of hands and feet; part of this is the contractural
arachnodactyly (So called distal arthrogryposis; autosomal dominant).