1/22. optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, cleft palate, microglossia and tongue hamartomata consistent with an oral-facial-digital syndrome (OFDS). The patient also had optic nerve colobomata, a Dandy-Walker malformation, micrognathia and apneic spells. This combination of clinical features has not been previously reported. This patient either expands the clinical features of one of the existing OFDS or represents a new variant. A review of the literature highlights the difficulties in making a specific diagnosis because of the different classification systems that exist in the literature.- - - - - - - - - - ranking = 1keywords = polydactyly (Clic here for more details about this article) |
2/22. Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature.Simpson-Golabi-Behmel Syndrome (SGBS), an X-linked encephalo-tropho-schisis syndrome described in fewer than a dozen families, is characterized by pre- and postnatal overgrowth, "coarse" face, minor facial anomalies and, in more severe cases, multiple congenital anomalies and mental retardation. We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance. In addition, the propositus also had pulmonic stenosis and a cleft palate. The findings present in our patients are compared to those in the original patients and to those in patients described more recently. Despite the fact that our patients have most of the minor and several of the more severe malformations, they are not mentally retarded.- - - - - - - - - - ranking = 0.5keywords = polydactyly (Clic here for more details about this article) |
3/22. Clefting, amniotic bands, and polydactyly: a distinct phenotype that supports an intrinsic mechanism for amniotic band sequence.Amniotic band sequence (ABS) is a well-described condition involving a variety of congenital anomalies in association with fibrous bands. However, many cases are associated with birth defects that are not readily explained by the mechanism of fibrous strings entangling body parts and causing disruption of the fetal structures. The most common of these is typical cleft lip and palate (CLP). Here we describe such a case, with typical ABS limb defects and constriction bands, along with CLP, supernumerary left nipple, polydactyly, and a skin papilla. This case is nearly identical to a child previously described by Guion-Almieda and Richieri-Costa [2000] and may, therefore, represent a previously unrecognized syndrome that overlaps with ABS. Furthermore it may be that cases with ABS-like anomalies associated with CLP represent a different condition, possibly caused by mutations in the genes Disorganization, p63, or IRF6.- - - - - - - - - - ranking = 2.5keywords = polydactyly (Clic here for more details about this article) |
4/22. Congenital malformations. cleft palate, congenital heart disease, absent tibiae, and polydactyly.A girl had cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet, and abnormal dermal patterns at birth. She was born after a pregnancy complicated by exposure to multiple medications. This combination of malformations may represent a distinct entity unrelated to the medication or may be a complication of the intrauterine drug exposure.- - - - - - - - - - ranking = 2.5keywords = polydactyly (Clic here for more details about this article) |
5/22. Twin fetuses with abnormalities that overlap with three midline malformation complexes.Twin fetuses aborted at an estimated gestational age of 145 days were concordant for oral, facial, skeletal, and central nervous system malformations. The twins were discordant for other anomalies including cardiac defects, polydactyly, and malrotated short bowel. The combination of malformations observed overlaps with that of the oral-facial-digital syndrome, hydrolethalus syndrome, and pallister-hall syndrome. The problem of phenotypic overlap between these syndromes is discussed.- - - - - - - - - - ranking = 0.5keywords = polydactyly (Clic here for more details about this article) |
6/22. Another case of microcephaly, facial clefting, and preaxial polydactyly.We describe a nine month old boy with failure to thrive, developmental delay, bilateral cleft lip and palate, and left preaxial polydactyly. The features are similar to those in a child described by Howard and Young and may be the second case of a previously unknown syndrome.- - - - - - - - - - ranking = 2.5keywords = polydactyly (Clic here for more details about this article) |
7/22. Lethal short-rib with median cleft and without polydactyly: a fourth case.A new case of Beemer short-rib lethal dwarfism is presented in a 27 weeks fetus with discussion of the radiological and clinical pecularities. Differential diagnosis with other short-rib-polydactyly syndromes is briefly developped.- - - - - - - - - - ranking = 2.5keywords = polydactyly (Clic here for more details about this article) |
8/22. Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (pallister-hall syndrome).We report one new case of congenital hypothalamic hamartoblastoma syndrome (pallister-hall syndrome) and one case of a diencephalic nodule associated with craniofacial malformations. Based on a review of 11 cases of pallister-hall syndrome documented by pathological examination, two cases presumed by phenotype, three cases of hypothalamic hamartoma with craniofacial anomalies only, and several cases of related interest, we delineate the clinical, neuroradiologic, and neuropathologic manifestations which aid in differential diagnosis. Clinical manifestations in infants with pallister-hall syndrome included postaxial polydactyly with nail dysplasia, short nose with flat nasal bridge, apparently low-set, posteriorly angulated ears, kidney and lung anomalies, congenital heart defects, imperforate anus, and micropenis with undescended or hypoplastic testes in males. These manifestations were associated with varying degrees of panhypopituitarism and pituitary aplasia. In three cases of hypothalamic hamartoma associated with craniofacial anomalies only, the face resembled that of holoprosencephaly. Other cases of hypothalamic hamartoma have had associated palate or heart defects or presented with precocious puberty. Of the infants with a hypothalamic hamartoblastoma at autopsy, neuropathologic findings were consistent with a primitive neuroectodermal tumor. Surgical tissue from our sole survivor suggested such tumors might mature, and the tumor has not recurred. Neuroradiologic diagnosis may be difficult but should be attempted in infants with these clinical manifestations; due to the need for prompt initiation of appropriate therapy.- - - - - - - - - - ranking = 0.5keywords = polydactyly (Clic here for more details about this article) |
9/22. "Pure" partial trisomy 3p due to the malsegregation of a balanced maternal translocation t (X;3) (p22.3;p21).The authors present the clinical and cytogenetic studies of a white malformed baby with dup (3p) secondary to the malsegregation of a maternal balanced (X;3) (p22.3;p21) translocation. Besides the typical clinical features he also presented polydactyly of both hands. X-replication findings of the mother's lymphocytes did not strictly follow the usual inactivation pattern of balanced X;A translocations.- - - - - - - - - - ranking = 0.5keywords = polydactyly (Clic here for more details about this article) |
10/22. Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation.Two brothers with severe CNS abnormalities, cleft lip/palate, polydactyly, and lung hypoplasia are reported as examples of the hydrolethalus syndrome, an autosomal recessive disorder. death from cardiopulmonary arrest occurred in patient 1 at age 4 months and in patient 2 at age 17 days. Detailed radiological and neuropathological description is provided on patient 2. We recommend realtime ultrasonography and, when indicated, fetoscopy for antenatal detection of the craniofacial and limb malformations associated with this syndrome.- - - - - - - - - - ranking = 0.5keywords = polydactyly (Clic here for more details about this article) |
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