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1/7. The inheritance of the Aarskog facial-digital-genital syndrome.

    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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2/7. Microsurgical second toe-metatarsal bone transfer for reconstructing congenital radial deficiency with hypoplastic thumb.

    This study describes a consecutive series of 11 children who received a microsurgical second toe-metatarsal bone transfer for reconstructing a hypoplastic thumb associated with radial club hand, between 1996 and 2000. The parents refused pollicization in all cases for aesthetic and cultural reasons. Surgery was intended to improve hand function and cosmetic appearance. The average patient age was 3 years, and the average follow-up period was 4 years. Average surgery time for the second toe-metatarsal bone transplantation was 8 hr. The primary success rate was 90.9 percent, with one patient requiring repeat surgery owing to venous occlusion. The surgical outcomes reveal a normal growth of the transferred toe, an acceptable range of motion, and satisfactory recovery of sensation. All children achieved both small and large grasp functions. The parents were satisfied with the reconstruction procedures. Based on the preliminary results, second toe-metatarsal bone transfer appears an acceptable alternative for reconstructing radial deficiency with hypoplastic thumb.
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3/7. Microvascular reconstruction of congenital anomalies and post-traumatic lesions in children.

    A series of toe-to-hand transfers in children with congenital or post-traumatic deficits is reported to emphasize the role of microvascular reconstruction as an important alternative. morbidity to the donor site is almost negligible, and the functional improvement to the hand is reasonably good considering the young age of the patients. Functional results are limited by the lack of full motion, soft-tissue contractures, sensory recovery, and the delay in cortical reeducation. We were surprised to find a relatively high number of vascular anomalies in the foot (both traumatic as well as congenital). Abnormalities in the transferred toe can limit the function of the hand, and the best (not worse) tissues available should be transferred. The importance of digit positioning to provide prehensile pinch and grasp as the ultimate goal needs to be emphasized so that opposing fingers rather than cosmetic fingers result in effective hand use. We recommend this operative procedure in selected patients along with other reconstructive alternatives, taking care in the selection process to consider factors related to both asthetic improvement of the hand as well as long-term functional return.
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4/7. Long-term complications of iris-claw phakic intraocular lens implantation in weill-marchesani syndrome.

    PURPOSE: This study was designed to report the long-term complications of iris-claw phakic intraocular lens implantation in a patient with weill-marchesani syndrome. methods: Case report and literature review. RESULTS: A 26-year-old man with a history of glaucoma had bilateral phakic lens implantation for high myopia 10 years previously. Two years later, the left implant dislocated and was repositioned. Slit-lamp examination of both eyes revealed phakic implants of the iris-claw variety. There were moderate iridocorneal adhesions in the areas in which the lens haptics pinched the iris in both eyes and moderate epithelial and stromal edema over the temporal one-third of the left cornea. The crystalline lenses were clear with 3 phacodonesis OU. Dilated fundus examinations revealed bilateral severe optic nerve cupping. Crystalline lens diameters were measured at 7.5mm in the right eye and 8 mm in the left. anterior chamber depths were 2.63 mm OD and 2.40 mm OS. Specular microscopy revealed central endothelial cell counts of 1133 and 587 cells/mm OD and OS, respectively. Axial lengths were 23.3 mm OD and 25 mm OS. Gonioscopic examination revealed bilateral angle closure with marked peripheral anterior synechiae. Based on our findings of short stature, shortened and thickened fingers, relatively normal axial length, microspherophakia, high myopia, and glaucoma, we diagnosed the patient with weill-marchesani syndrome. CONCLUSION: iris claw-lens phakic lenses may be an effective surgical alternative to correct high myopia in select patients; however, it may produce long-term complications in eyes with specific features.
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5/7. Free vascularized whole joint transfer in children.

    Reconstruction of the traumatized finger joint with epiphyseal destruction has long been problematic. Since free vascularized whole joint transfer was introduced as a treatment for joint and epiphyseal destruction, this procedure has been selected as an alternative treatment because it may provide a growing epiphysis. We have reviewed our series of 19 joint transfers. Mean age at operation was 6.2 years (range 3 to 12). Average active range of motion was 31 degrees/61 degrees for the group with posttraumatic reconstruction (n = 12) and 21 degrees/43 degrees for the group with reconstruction of a congenital deformity (n = 7), with an overall average of 27 degrees/54 degrees. Average range of motion following transfer of an metatarsophalangeal (MTP) or metacarpophalangeal (MCP) joint to an MCP joint position was 39 degrees/75 degrees (n = 4); proximal interphalangeal (PIP) to PIP transfer was 22 degrees/39 degrees (n = 13); and PIP to MCP transfer was 38 degrees/51 degrees (n = 2). The proximal phalanges in MCP joints transferred to the MCP position grew an average of 7.0 mm, and the middle phalanges of joints transferred to the PIP position grew 4.3 mm. Almost normal growth was observed in all transferred joints except two that showed premature epiphyseal closure. Indications for this procedure and techniques to improve range of motion are described.
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6/7. Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?

    The oral-facial-digital syndromes (OFDS) comprise a group of heterogeneous genetic disorders. Considerable clinical overlap exists within the nine described types [Toriello, Clin Dysmorph 2:95-105, 1993], and with other entities such as Pallister-Hall (PH) syndrome and hydrolethalus syndrome, leading to difficulties in the classification of OFDS. We report on two brothers with findings overlapping OFDS II, VI, and pallister-hall syndrome who had congenital absence of the pituitary gland. This may represent a new type of OFDS or, alternatively, an example of phenotypic variability within the OFDS. It also emphasizes that agenesis of the pituitary gland can occur in a variety of syndromes with midline defects.
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7/7. New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with fanconi anemia.

    We describe four cases with several findings of fanconi anemia (FA), but without hypersensitivity to dna cross-linking that is the distinguishing characteristic of FA. Two of the cases are male and female sibs of Hispanic origin, age 6 years and 11 months, respectively. Both have short stature, failure to thrive, absent thumbs, short palpebral fissures, and skin pigmentation abnormalities. The girl also has developmental "dysplasia" of her hips. Presently, both siblings are hematologically normal. Elevated baseline chromosome breakage was observed in the boy, but not in the girl. Neither sib showed elevated diepoxybutane (DEB)-induced chromosomal breakage. In a subsequent pregnancy, prenatal studies showed slightly elevated baseline and DEB induced chromosome breakage (greater than normal, but lower than the established range for FA). The fetus had intrauterine growth retardation and an absent right thumb. A review of cases referred to the International fanconi anemia Registry for DEB testing showed one additional case with similar findings. That patient, a girl, of Caucasian English ancestry, age 14 years, had short stature, a history of failure to thrive, skin pigmentation abnormalities, absent right thumb, hypoplastic left thumb, and hydrocephalus that resolved spontaneously. Elevated baseline chromosome breakage was observed in skin fibroblasts but not in lymphocytes. We postulate that these cases represent a previously undescribed autosomal recessive syndrome. These and other previously reported cases provide evidence for alternative genetic mechanisms that may result in developmental anomalies similar to those seen in FA.
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