| We report on a family with conductive hearing loss due to congenital stapes ankylosis, and with hyperopia, broad thumbs, and broad first toes. Neither of the studied relatives had symphalangism, possibly distinguishing this syndrome as an entity separate from the facio-audio-symphalangism and proximal symphalangism syndromes. An alternative possibility is that this family falls within the spectrum of the facioaudio-symphalangism and proximal symphalangism syndromes. Visualization of the ossicular chain, and ophthalmologic and radiologic studies are important in the evaluation of families with congenital conductive hearing loss. A characteristic physiognomy in our patients is present; this autosomal dominant syndrome was first described by Teunissen and Cremers [1990: Laryngoscope 100:380-384]. ( info) |
2/50. Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2. Mutations of the fibroblast growth factor receptors (FGFRs) cause several dominantly inherited congenital skeletal disorders and syndromes. Recently, these mutations have been suggested to cause either ligand-independent activation of the receptor or a dominant negative inactivation. The analysis of two Japanese patients with Pfeiffer syndrome and postaxial polydactyly of the hand now shows that both carried the same 1119-2A-to-G transition of the FGFR2 gene and this nonsense mutation caused skipping of exon 9(B) and haploinsufficiency of FGFR2. ( info) |
3/50. uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder. We report on three male patients from a single family with a brachyturricephaly, "pugilistic" facial appearance, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. Three other males in the family, now deceased from cardiac disease, appear to have had the same disorder. The mother of the propositus has milder signs of the syndrome. All affected males are related through the maternal line. These cases represent an apparently previously undescribed X-linked recessive syndrome. ( info) |
4/50. Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome. We report a 6 year old girl with an isolated humoral immune deficiency and a unique combination of dysmorphic features. Physical findings include microcephaly, micrognathia, sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4-5 syndactyly of toes, recessed great toes, anterior anus, and hypoplastic labia minora. Radiographic findings include triphalangeal thumbs and hypoplastic first metatarsals. She has postnatal growth retardation and her development is substantially slower than her twin's. Her clinical course has been complicated by recurrent sinopulmonary infections and pneumococcal bacteraemia. Laboratory evaluation revealed hypogammaglobulinaemia, absent B cells, and a 46,XX karyotype. A review of the literature and the london Dysmorphology database did not produce any recognizable syndromes that match her constellation of findings. She may represent a unique syndrome of unknown etiology. ( info) |
| We report a family with distal arthrogryposis and cleft palate which demonstrates the clinical overlap between Gordon syndrome and Aase-Smith syndrome. The two syndromes may represent a single clinical entity. ( info) |
6/50. Severe terminal transverse limb reduction defects in homozygous Southeast-Asian alpha-thalassaemia-1. A rare occurrence of a homozygous a-thalassaemia fetus with severe terminal transverse limb reduction defects involving all limbs is reported. When prenatal testing, either by dna analysis or haemoglobin electrophoresis, indicating a fetus with homozygous alpha-thalassaemia, a complete sonographic survey of fetal limbs is mandatory, and terminal transverse limb reduction defects should be included in genetic counselling prior to in utero fetal therapy. ( info) |
7/50. Glypican 1 gene: good candidate for brachydactyly type E. In this report, we describe two siblings, a brother and a sister, with mental retardation and limb abnormalities (brachymetacarpy and brachymetatarsy in the brother and clinodactyly in his sister). Fluorescent in situ hybridization analysis (FISH) using subtelomeric probes proved that the patients carried an unbalanced subtelomeric rearrangement with 2qter deletion involving the Glypican 1 gene. Given the expression pattern in the developing limb bud, Glypican 1 gene represents a good candidate for brachydactyly E. ( info) |
8/50. Four cases with hypoplastic thumbs and encephaloceles. We report on four infants with hypoplastic thumbs and occipital encephaloceles. None had either a chromosome abnormality or a family history of any major malformation. The literature and database were searched intensively. No similar cases were reported previously, suggesting that the constellations might represent a new genetic syndrome. ( info) |
9/50. New variant of acro-renal field defect. We describe two patients with a new variant of acro-renal field defect. The first was a full-term, small-for-gestational-age female infant who showed preaxial polydactyly of the right hand and horseshoe kidney on abdominal ultrasonographic examination. In addition, there was a single umbilical artery and some mild facial errors of morphogenesis. The second patient, a full-term male infant, had horseshoe kidney and left hand ectrodactyly. Various renal abnormalities have been described in the literature, but there are no reports on horseshoe kidney as part of acro-renal field defect. We suggest that acro-renal field defect should not be regarded as a definitive diagnosis, but only as a starting point for the search for various conditions. ( info) |
10/50. Hepatoerythropoietic porphyria in a woman with short stature and deformed hands. A 23-year-old woman from honduras was diagnosed to have hepatoerythropoietic porphyria. She had photosensitive skin of early onset, hypertrichosis, and severe scleroderma-like lesions of the hands. Erythrocyte uroporphyrinogen decarboxylase activity was reduced to about 10% of the normal activity. ( info) |