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1/18. Oral-facial-digital syndrome with hypothalamic hamartoma, postaxial ray hypoplasia of the limbs, and vagino-cystic communication: a new variant?

    We report on a 20-month-old girl with hypothalamic hamartoma, left cerebral atrophy, tongue nodules, oral frenula, micrognathia, hypoplasia of the left ulna, the fibulae, and right tibia, polysyndactyly of the hands and feet, vagino-cystic drainage with hydrometrocolpos, megaloureters, and hydronephrosis, agenesis of urethra, complex partial seizures, and central precocious puberty. The differential diagnosis is discussed. We conclude that the malformation complex in this girl is an oral-facial-digital syndrome, but is different from any of the 11 known subtypes.
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2/18. A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.

    Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of sporadically occurring neoplasia. CS and BRR share some clinical features, specifically hamartomata and lipomatosis. Investigation of other clinically distinct syndromes associated with lipomatosis and overgrowth has established germline and germline mosaic PTEN mutations in several patients with proteus syndrome. To this expanding array of clinically distinct phenotypes associated with PTEN mutations, we now report a novel heterozygous germline mutation, H61D, in a patient with features of VATER association with macrocephaly and ventriculomegaly.
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3/18. prenatal diagnosis of femur-fibula-ulna complex by ultrasound examination at 20 weeks of gestation.

    We describe the prenatal sonographic diagnosis of femur-fibula-ulna complex at 20 weeks of gestation. On targeted ultrasound examination, a severe malformation of the lower limbs was observed. Further sonographic exploration demonstrated bilateral asymmetrical femoral hypoplasia, hypoplasia of both tibiae, bilateral aplasia of the fibulae and oligosyndactyly of the right hand with absence of the 4th and 5th rays. The prenatal sonographic features and differential diagnosis are discussed.
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4/18. Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defects.

    Congenital palmar polyonychia (CPP) is a rare and usually sporadic birth defect. We report on a Mexican girl with CPP of both 5th fingers and her sister with ectrodactyly with ulnar ray deficits and agenesis of the ulna. In previous reports, CPP has been seen in ectrodactyly with involvement of the ulna and ulnar digital rays and with postaxial polydactyly. Such findings observed in our patients can be considered a form of CPP. Autosomal dominant inheritance of CPP is more likely based in previous informative families with vertical transmission and instances of male-to-male transmission. The present and two previous families with affected sibs only may represent parental gonadal mosaicism, whereas de novo mutation or incomplete evaluation of relatives could be an explanation for sporadic cases. Variable expression of the CPP phenotype may be a new autosomal dominant entity, i.e., a CPP-postaxial limb defect syndrome.
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5/18. A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al-Awadi/Raas-Rothschild syndrome?

    We report on a 3-year-old Thai boy with limb, pelvic, and genital malformations. The combination of findings found in this patient is similar to that of Al-Awadi/Raas-Rothchild syndrome (AARRS) or limb/pelvis hypoplasia/aplasia syndrome. The upper limbs are more severely affected than the lower ones. Unlike that of AARRS, the radial ray is more severely affected than the ulnar ray. The presence of humeroulnar synostosis and humero-ulnar-radial synostosis and the absence of a radius distinguishes it from AARRS. The similarities and dissimilarities between the features in the present patient and other limb-pelvic hypoplasia/aplasia syndromes are discussed. The findings in this group of patients appear to demonstrate limb-pelvis-genital organ developmental field defects.
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6/18. Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: a case report and review of the literature.

    We report on a male newborn with a rarely described congenital limb deficiency syndrome consisting of shortening and anterior bowing of the right lower limb at the distal third of the tibia with associated overlying soft tissue dimpling, oligodactyly of the right foot, and a left-sided oligosyndactyly of the hand. The right hand and left lower limb were clinically normal. Radiographic examination revealed complete absence of the right fibula, absence of the right-sided Vth ray, and anterior bowing and shortening of the right-sided tibia. Femora, humeri, ulnae, and radii were normal. The infant had neither facial dysmorphia nor other associated anomalies. A limb deficiency syndrome comparable to this case has been reported in a female by Hecht and Scott, the only report classified under OMIM 246570 so far. We found two other reports describing three cases comparable to our case and the female reported by Hecht and Scott, and reviewed these cases. The major common findings in all the five cases consist of fibular aplasia, tibial campomelia, and oligosyndactyly. Therefore, we propose to name it fibular aplasia-tibial campomelia-oligosyndactyly (FATCO) syndrome. Additional case reports are needed for further delineation of this rare limb deficiency syndrome.
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7/18. Should chromosome breakage studies be performed in patients with VACTERL association?

    The VACTERL association is characterized as a non-random pattern of defects including at least three of the following cardinal features: vertebral anomalies, anal atresia, cardiovascular malformations, tracheoesophageal fistula, renal and limb anomalies, and is postulated to be a very heterogeneous disorder. These defects can also be seen as part of the fanconi anemia (FA) spectrum. Although VACTERL with hydrocephaly has clearly been associated with FA, the indication for chromosome breakage studies is not clear in VACTERL without hydrocephaly. We report on three unrelated patients with the VACTERL phenotype and the confirmed diagnosis of FA. Together with the data of 13 similar cases extracted from a European genotype-phenotype correlation study for FA and those from the four reported cases of the literature, we show that (i) in a series of individuals proven to have FA, 5% (13/245) also have the VACTERL phenotype, (ii) all have radial ray anomalies and 12 of these 13 subjects show at least 1 other feature of FA (cafe au lait spots, growth retardation, microcephaly, dysmorphism), and (iii) the VACTERL phenotype appears to be over represented in the FA complementation groups D1, E, and F. Since the diagnosis of FA is important for genetic counseling and early therapeutic intervention in patients, we conclude that chromosomal breakage studies should be performed, not only in cases of VACTERL with hydrocephaly, but also in cases VACTERL with radial-ray anomalies and especially if the individual has additional FA associated manifestations such as skin pigmentation abnormalities, growth retardation, microcephaly, or microphthalmia.
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8/18. Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis.

    A 5.4-year-old male propositus is reported with mild dysmorphic features including hypoplasia of the radial part of both hands affecting thenar, thumb and fingers 2-3, incomplete syndactyly of fingers 3-4, single palmar creases, brachymesophalangia of toes 3-5, dissociated retardation of bone age, telecanthus, spina bifida occulta, cryptorchidism, muscular hypotonia, and borderline mental retardation. His karyotype was unbalanced, 46,XY,der(16)ins(4;16)(q26q28.1; q12.1q12.2)pat. In the propositus' father who had brachydactyly of fingers 2-5 and brachymesophalangia of toes 3-5 the insertion was reciprocal, 46,XY,rep ins(4;16)(q26q28.1;q12.1q12.2). Insertions are rare, reciprocal insertions most unusual. The characterization of the insertion in the propositus and the detection of its reciprocity in the father were achieved by the application of spectral karyotyping (SKY). Further examination of the propositus' unbalanced genome by array-CGH analysis delimited the chromosomal locations of the deletion/insertion rearrangement on a 0.5-2 Mb resolution level and allowed to design specific BAC FISH analyses that pinpointed the borders of the affected segments. The rearrangement involved a segment of 7.7 Mb between RP11-1030 g22 and RP11-52k8 at the chromosomal regions 4q26 and 4q28.1, respectively, and a segment of 2.8 Mb between RP11-242n20 at 16q12.1 and RP11-324d17 at 16q12.2. A simple molecular genetic explanation of the phenotype cannot be given. A relation to the Townes Brocks gene (SALL1) located 340 kb proximal of the 16q12 deletion/insertion is unlikely. Possibly more relevant is an overlap of the 16q12 deletion/insertion with a small deletion of the syntenic chromosomal region in the mouse that causes a developmental disorder of digits ("Fused toes").
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9/18. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

    Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect that can occur in isolation or as part of a malformation complex. Considerable progress is being made in the identification of genetic causes of CDH. We applied array-based comparative genomic hybridization (aCGH) of approximately 1Mb resolution to 29 CDH patients with prior normal karyotypes who had been recruited into our multi-site study. One patient, clinically diagnosed with Fryns syndrome, demonstrated a de novo 5Mb deletion at chromosome region 1q41-q42.12 that was confirmed by FISH. Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH.
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10/18. New form of postaxial acrofacial dysostosis?

    We report on a 2-month-old Sephardic Jewish girl with bilateral and symmetrical deficiency of the fifth digital rays of all 4 limbs, combined with severe deformations and other malformations of the limbs. These findings were associated with orofacial malformations, as well as with visceral anomalies differing from those found in other postaxial deficiency syndromes. parents were closely consanguineous. We assume this patient represents a new form of postaxial acrofacial dysostosis.
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