| We report on a male fetus with partial trisomy 2p21-2pter and monosomy 15q26-15qter due to t(2,15)(p21;q26). This fetus had a typical trisomy 2p phenotype including minor facial anomalies, musculoskeletal defects and two unusual findings: polydactyly and anencephaly. The observation of anencephaly adds support to the theory that genetic material mapping to chromosome band 2p24 is involved in neural tube development. In addition, we propose that a gene on 2p23 may play a role in the morphogenetic patterning of hands and feet. ( info) |
12/243. prenatal diagnosis of Meckel syndrome: a case report. OBJECTIVE: To demonstrate the major sonographic findings associated with Meckel syndrome and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. SUBJECTS: Two fetuses with prenatal diagnosis of Meckel syndrome were sonographically evaluated. RESULTS: Both fetuses were demonstrated to have evidence of renal cystic dysplasia, occipital cephalocele and postaxial polydactyly. One case was diagnosed at 16 weeks of gestation whereas the other was detected at 36 weeks. Of interest, the first case had only unilateral renal cystic dysplasia and contralateral renal agenesis and mild degree of oligohydramnios. The other related anomalies which were not detected prenatally included cerebellar hypoplasia in case 1 and micrognathia in case 2. CONCLUSION: The main sonographic findings included renal cystic dysplasia, occipital cephalocele and postaxial polydactyly. ( info) |
13/243. Ulnar dimelia. A case of ulnar dimelia with good preservation of upper limb function is described. In this particular case an association with liver cirrhosis, idiopathic scoliosis and dislocatable shoulder was observed. ( info) |
14/243. Cyclopia and exadactyly: CT and MRI findings. Cyclopia is a congenital abnormality consisting of fused orbits and a single eye and is the most extreme form of alobar holoprosencephaly. The present case describes the CT and MRI findings in the skull of a 33-week-old cadaver with alobar holoprosencephaly and exadactyly. ( info) |
| A 4-month-old boy with polydactyly and bifid epiglottis was found to have a large sellar and suprasellar mass. When the diagnosis of pallister-hall syndrome was made, conservative management was elected. When the patient was 2 years old, the tumor had grown proportionally with the patient, and he was developing appropriately. Although rare, this entity is important to recognize not only for clinical diagnosis but also for appropriate management and genetic counseling. ( info) |
16/243. Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs. We describe two brothers with variable expression of a unique syndrome. One sib has postaxial polydactyly of the right hand and feet, two digits on the left hand (a thumb and first digit), bilateral ulnar ray dysgenesis, ectrodactyly of one hand, and ultrasonic evidence of cystic kidneys. His brother has postaxial polydactyly and small kidneys. The parents and a third sib are normal. They do not have the Pallister ulnar-mammary syndrome but may have an unusual form of the Weyers oligodactyly syndrome. This appears to be the first report of an acro-renal syndrome with ulnar dysgenesis, oligodactyly, polydactyly, and dysplastic kidneys. ( info) |
17/243. Nystagmus mimicking spasmus nutans as the presenting sign of bardet-biedl syndrome. PURPOSE: To investigate the nystagmus of twin brothers presenting with spasmus nutans later diagnosed as bardet-biedl syndrome. methods: The twins presented at the age of 14 months with a presumed diagnosis of spasmus nutans. They were followed clinically and with quantitative electro-oculographic eye movement recordings until the age of 6 years. RESULTS: polydactyly, truncal obesity, mild delay in cognitive development, visual acuity of 20/100, attenuated retinal vessels and pale disks, and bilaterally almost extinguished scotopic and photopic electroretinograms were found in both brothers. They had fine, fast, pendular, disconjugate, intermittent, oblique nystagmus. No head nodding was observed. CONCLUSION: As described in patients with other retinal diseases such as achromatopsia and congenital stationary night blindness, nystagmus of patients with bardet-biedl syndrome can mimic spasmus nutans. ( info) |
18/243. Laurin-Sandrow syndrome--a surgical challenge. We describe the sixth reported case of Laurin-Sandrow syndrome. This spectrum of congenital abnormalities includes complex syndactyly, often associated with ulnar duplication, mirror feet and columella deformities. We discuss Laurin-Sandrow syndrome and report on its surgical management. ( info) |
19/243. Unusual complication of ligation of rudimentary ulnar digit. We report a case of rudimentary ulnar polydactyly of the hand of a 7-year-old female child. Histological examination revealed a central traumatic neuroma which branched into five digit-like projections covered with hyperkeratotic epidermis. We think this was a result of suture ligation during the postnatal period. ( info) |
20/243. Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. Jeune syndrome (JS) and short-rib polydactyly syndrome type III (SRP type III) are autosomal recessive disorders characterized by short ribs and polydactyly. They are distinguished from each other by the more severe radiological and histological bone findings as well as the occurrence of facial anomalies, ambiguous genitalia, and occasionally, cloacal abnormalities in SRP type III. We present a family in which two children have mild JS and one has SRP type III as evidence that JS and SRP type III are variants of the same disorder. The intrafamilial variability may reflect the effects of modifying loci on gene expression. ( info) |