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Prominent physical features of the Aarskog syndrome are short stature, telecanthus, ptosis, short broad nose, long philtrum, thin upper vermilion border and pouty lower lip, low-set jug-handle ears, short broad hands with clawlike positioning of the fingers, broad feet with bulbous toes, ventral scrotal folds, cryptorchidism, and hernias. Four families with 20 affected males are reported. Pedigree analysis is compatible with X-linked recessive inheritance with occasional partial expression in heterozygote females. The fact that seven sons, all unaffected, have been born to affected males argues against the alternative hypothesis of autosomal sex-influenced inheritance.
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PMID:The inheritance of the Aarskog facial-digital-genital syndrome. 112 28

The syndrome: We describe 3 Brazilian brothers presenting a cluster of signs strongly suggesting a "new" MCA/MR syndrome. The main clinical signs include short stature, microbrachycephaly, mental retardation, palpebral ptosis, coloboma of iris and retina, nystagmus, strabismus, and cleft lip/palate. This is either an autosomal or X-linked recessive trait.
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PMID:Short stature, mental retardation, eye anomalies, and cleft lip/palate. 160 26

The authors undertook a clinical and genetic study in a large family with the aim of identifying the mode of inheritance of Fabry syndrome and congenital ptosis. These two types of pathology were present to varying extents. The family pedigree consisted of 95 individuals, spanning 5 generations. Three individuals (males) were found to have Fabry syndrome and 14 (males and females) congenital ptosis. The patients with Fabry syndrome also had congenital ptosis. According to these results, Fabry syndrome is inherited by an X-linked recessive mode and congenital ptosis by an autosomal dominant mode.
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PMID:[Familial coexistence of the association: Fabry's syndrome and congenital ptosis]. 177 4

Three brothers with a previously unrecognized pattern of malformations are presented. The syndrome is characterized by short stature; a broad, prominent forehead, hypertelorism, congenital ptosis, a broad, short nose with anteverted nostrils, a long, broad upper lip, low-set, abnormally shaped and posteriorly rotated ears; simian palmar creases; brachyclinodactyly; short fingers; ligamentous laxity allowing for hyperextensibility of the fingers, genu recurvatum, flat feet; and an anomalous penoscrotal configuration resulting in "saddle" deformity with scrotal folds incircling the base of the penis. This disorder is apparently transmitted as an X-linked recessive trait. It is important to recognize this syndrome because of its heritability and for prevention of neurologic problems consequent to ligamentous laxity and malformation of cervical vertebras.
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PMID:Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome. 517 68

Six families with arthrogryposis (congenital contractures) inherited in an X-linked recessive manner are reported. Family histories from a study of over 350 patients with congenital contractures of the joints (arthrogryposis) were reviewed and of these, three probands had family histories consistent with X-linked recessive inheritance. Three other families were recognized through correspondence. Three forms of X-linked recessively inherited arthrogryposis are described: (1) Severe lethal X-linked arthrogryposis with severe contractures scoliosis deformities, hypotonia, and death due to respiratory insufficiency within 3 months of birth (1 family); (2) Moderately severe X-linked arthrogryposis with severe contractures, ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence (2 families); and (3) Resolving X-linked arthrogryposis with mild to moderate contractures at birth which improve dramatically with time (2 families and 1 sporadic case).
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PMID:Three distinct types of X-linked arthrogryposis seen in 6 families. 720 Aug 38

We report a baby boy, the third child of a nonconsanguineous couple, with congenital myotubular myopathy. At birth, he had generalized hypotonia and respiratory distress. On physical examination, an elongated apathetic face, high-arched palate, bilateral ptosis, funnel chest, frog-leg posture, little spontaneous movement of the limbs and areflexia were observed. A chest x-ray revealed thin ribs and clavicles. The infant died 54 days after birth despite intensive management. The mother, a healthy 32-year-old female, displayed myotubes on muscle biopsy which suggested an X-linked recessive inheritance pattern for myotubular myopathy. This report illustrates the importance of taking a detailed family history as well as a muscle biopsy in the diagnosis of X-linked recessive myotubular myopathy.
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PMID:X-linked recessive myotubular myopathy proven by muscle biopsy. 906 5

We report on the prenatal diagnosis of two sib female fetuses with a satellited short arm of chromosome 4 and a male fetus with a satellited long arm of chromosome X. The first two fetuses had a cryptic balanced translocation (4;15)(p16;p11.1) inherited from a mother carrying a satellited 4p and having an affected child with the Wolf-Hirschhorn syndrome. The third fetus had a satellited Xq, with a deletion of subtelomeric region of Xq. The mother was subsequently found to have the same satellited Xq but without the presence of a reciprocal translocation. She decided to continue the pregnancy. The proband with a satellited Xq manifested developmental delay, mental retardation, hypertelorism, ptosis of one eye, low-set ears, and hearing disturbance at age 6 months. Fluorescence in situ hybridization (FISH) with a specific telomeric or subtelomeric probe, and genetic marker analyses were used to confirm the diagnosis. Pregnant women with satellited non-acrocentric chromosomes are at risk for carrying fetuses with chromosome abnormalities. If the X chromosome is involved, the fetuses can be affected with X-linked recessive disorders including mental retardation. Detailed genetic counselling, cytogenetic studies, FISH and genetic marker analyses are useful in prenatal detection of abnormal chromosome rearrangements.
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PMID:Prenatal diagnosis of inherited satellited non-acrocentric chromosomes. 1082 Apr 5

Ichthyosis follicularis (IF) is a very rare neurocutaneous, X-linked recessive condition affecting the skin, hair, eyes, and central nervous system (CNS). This report describes a child with facial dysmorphism, mental retardation, psychomotor delay, congenital alopecia of the scalp, eyebrows, and eyelashes, and extensive spiny follicular papules. A skin biopsy specimen showed the characteristic absence of sebaceous glands. We also reviewed the literature on this very rare entity. Additional findings observed in our patient, including hepatosplenomegaly, undescended testicles, and ptosis, have not been reported before.
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PMID:Ichthyosis follicularis: a case report and review of the literature. 1255 47

We describe a 34-year-old patient who was admitted with episodic diplopia, ptosis, and swallowing difficulties of 6 months duration. He also had some muscle cramps aggravated by exercise since the age of 20. Bilateral ptosis of the eyelids, normal gaze, rare fasciculations of the tongue, easy fatigability of ocular and bilateral proximal limb muscles, atrophy of the testes, and gynecomastia were found on neurologic examination. Repetitive nerve stimulation studies and jitter measurement disclosed the defect of neuromuscular junction transmission. Acetylcholine receptor binding antibody was not detected. Acetylcholine esterase inhibitors relieved these episodic symptoms. A genetic study that showed an expansion of cytosine-adenine-guanine (CAG) repeat in the first exon of the androgen receptor (AR) confirmed the diagnosis of X-linked recessive spinal and bulbar muscular atrophy (X-SBMA). Thus, this case shows a rare association of ocular myasthenia gravis with X-SBMA.
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PMID:Ocular myasthenia gravis associated with x-linked recessive spinal and bulbar muscular atrophy. 1907 30

An extensive range of molecular defects have been identified in the human mitochondrial genome (mtDNA), many associated with well-characterised, progressive neurological syndromes. We describe a patient who presented to a mitochondrial clinic with progressive bilateral ptosis, external opthalmoplegia and increasing difficulty with walking. He had previously been diagnosed with a dominant, demyelinating polyneuropathy due to PMP22 gene duplication and had also developed gout, presenting in acute renal failure, due to an X-linked recessive HPRT gene mutation. Muscle biopsy revealed many COX-deficient fibres which we show contain high levels of a third genetic defect--a novel, mitochondrial tRNA(Leu(CUN)) (MTTL2) gene mutation.
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PMID:Neuromuscular disease presentation with three genetic defects involving two genomes. 1985 45


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