| Dejerine-Klumpke syndrome | A type of brachial birth palsy in which there is paralysis of the muscles of the distal forearm and hand (all ulnar innervated muscles, plus more distal radial and median-innervated muscles), due to a lesion of the lower trunk of the brachial plexus, or of the C8 and T1 cervical roots. Synonym: Dejerine-Klumpke palsy, Dejerine-Klumpke syndrome, Klumpke's paralysis. (05 Mar 2000) |
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| Dejerine-Roussy syndrome | <syndrome> A syndrome produced by infarction of the postero-inferior thalamus causing transient hemiparesis, severe loss of superficial and deep sensation with preservation of crude pain in the hypalgic limbs which frequently have vasomotor or trophic disturbances. Synonym: Dejerine-Roussy syndrome. (05 Mar 2000) |
| Dejerine | Joseph J., Paris neurologist, 1849-1917. See: Dejerine's disease, Dejerine's hand phenomenon, Dejerine's reflex, Dejerine's sign, Dejerine-Lichtheim phenomenon, Dejerine-Roussy syndrome, Dejerine-Sottas disease, Dejerine-Klumpke syndrome, Landouzy-Dejerine dystrophy. (05 Mar 2000) |
| Dejerine-Klumpke | Augusta, French neurologist (born in the U.S.), 1859-1927. See: Klumpke palsy, Klumpke's paralysis, Dejerine-Klumpke palsy, Dejerine-Klumpke syndrome. (05 Mar 2000) |
| Dejerine-Klumpke palsy | A type of brachial birth palsy in which there is paralysis of the muscles of the distal forearm and hand (all ulnar innervated muscles, plus more distal radial and median-innervated muscles), due to a lesion of the lower trunk of the brachial plexus, or of the C8 and T1 cervical roots. Synonym: Dejerine-Klumpke palsy, Dejerine-Klumpke syndrome, Klumpke's paralysis. (05 Mar 2000) |
| Dejerine-Lichtheim phenomenon | <clinical sign> In subcortical aphasia, the patient can indicate by use of the fingers the number of syllables of a word he has in mind but cannot speak. Synonym: Dejerine-Lichtheim phenomenon. (05 Mar 2000) |
| Dejerine's disease | A familial type of demyelinating sensorimotor polyneuropathy that begins in early childhood and is slowly progressive; clinically characterised by foot pain and paresthesias, followed by symmetrical weakness and wasting of the distal limbs; one of the causes of stork legs; patients are wheelchair bound at an early age; peripheral nerves are palpably enlarged and non-tender; pathologically, onion bulb formation is seen in the nerves: whorls of overlapping, intertwined Schwann cell processes that encircle bare axons; usually autosomal recessive inheritance. Synonym: Dejerine's disease, progressive hypertrophic polyneuropathy. (05 Mar 2000) |
| Dejerine's hand phenomenon | Clonic contractions of the flexors of the hand (wrist) on tapping the dorsum of the hand or the volar side of the forearm near the wrist; occurs in normal persons but is exaggerated in pyramidal tract lesions. Synonym: Dejerine's reflex. (05 Mar 2000) |
| Dejerine-Sottas disease | A familial type of demyelinating sensorimotor polyneuropathy that begins in early childhood and is slowly progressive; clinically characterised by foot pain and paresthesias, followed by symmetrical weakness and wasting of the distal limbs; one of the causes of stork legs; patients are wheelchair bound at an early age; peripheral nerves are palpably enlarged and non-tender; pathologically, onion bulb formation is seen in the nerves: whorls of overlapping, intertwined Schwann cell processes that encircle bare axons; usually autosomal recessive inheritance. Synonym: Dejerine's disease, progressive hypertrophic polyneuropathy. (05 Mar 2000) |
| Dejerine's reflex | Clonic contractions of the flexors of the hand (wrist) on tapping the dorsum of the hand or the volar side of the forearm near the wrist; occurs in normal persons but is exaggerated in pyramidal tract lesions. Synonym: Dejerine's reflex. (05 Mar 2000) |
| Dejerine's sign | <clinical sign> Aggravation of symptoms of radiculitis by the acts of coughing, sneezing, or straining to defecate. (05 Mar 2000) |
| Landouzy-Dejerine dystrophy | A relatively benign type of muscular dystrophy commencing in childhood and slowly progressive; characterised by wasting and weakness, sometimes asymmetrical, mainly of the muscles of the face, shoulder girdle, and arms; autosomal dominant inheritance. Synonym: facioscapulohumeral atrophy, Landouzy-Dejerine dystrophy. (05 Mar 2000) |
| Aarskog-Scott syndrome | A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms. Synonym: Aarskog-Scott syndrome. (05 Mar 2000) |
| Aarskog syndrome | <syndrome> Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. They tabulated the findings in 82 previous cases. X-linked recessive inheritance has been repeatedly suggested. The family reported by Welch (1974) had affected males in 3 consecutive generations. Thus, there is either genetic heterogeneity or this is an autosomal dominant with strong sex-influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion. Stretchable skin was present in the cases of Grier et al. (1983). Teebi et al. (1993) reported the case of an affected mother and 4 sons (including a pair of monozygotic twins) by 2 different husbands. They suggested that the manifestations were as severe in the mother as in the sons and that this suggested autosomal dominant inheritance. Actually, the mother seemed less severely affected, compatible with X-linked inheritance. Clinical signs: Mild to moderate short stature,normocephaly, Widow's peak hair, maxillary hypoplasia, broad nasal bridge, anteverted nostrils, long philtrum, broad upper lip, curved linear dimple below the lower lip, hypertelorism, ptosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, floppy ears, lop-ears,cleft lip/palate, shawl scrotum, saddle-bag scrotum, cryptorchidism, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphoedema of the feet, ligamentous laxity, osteochondritis dissecans, proximal finger joint hyperextensibility, flexed distal finger joints, genu recurvatum, flat feet, stretchable skin, cervical spine hypermobility, odontoid anomaly, macrocytic anaemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial pulmonary disease, sternal deformity. Inheritance: Sex-influenced autosomal dominant form, also X-linked form. (05 Aug 1998) |
| abdominal muscle deficiency syndrome | <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear. (05 Mar 2000) |