Thumb Aplasia Research Articles

Long-term results of index finger pollicization for congenital thumb anomalies: a systematic review.

This systematic review analyses the literature for long-term outcomes of index finger pollicization. This review includes all seven studies that reported outcomes of index finger pollicization for congenital thumb aplasia or hypoplasia for qualitative review. The seven studies included 108 index finger pollicizations with 54% male children. The studies did not describe the preoperative quality and function of the transposed index finger. Grip strength was in the range of 52%-76% of the contralateral hand. Lateral pinch and key grip strength were also approximately 50% of the contralateral hand. The main drawback of the collective literature is the lack of homogeneity of results and a standardized protocol for reporting postoperative outcomes. These factors need to be addressed to compare the long-term results of pollicizations accurately.

Nager Syndrome Co-Harboring Mutation Consistent with Stickler Syndrome: A Rare Case Report

Nager syndrome, or preaxial acrofacial dysostosis, is a rare malformation characterized by abnormalities of the craniofacial skeleton and limbs. Although most cases are sporadic and some cases have been demonstrated to have an autosomal dominant or recessive mode of inheritance, SF3B4 haploinsufficiency is the most common genetic abnormality identified in this, of which only around 100 cases have been reported so far in the literature. Classically characterized by ante-mongoloid slant, retrognathia, midface retrusion and proximal limb abnormalities like thumb aplasia or hypoplasia, arachnodactyly and radioulnar synostosis, the significant morbidity and mortality in this challenging condition is primarily due to airway abnormalities causing respiratory obstruction. We report a case of genetically confirmed Nager syndrome simultaneously harbouring a mutation consistent with Stickler syndrome type II.

Staged reconstruction of radial longitudinal deficiency and thumb aplasia – case report and a review of the literature

Purpose: Presentation of surgical treatment of a girl with type IV radial longitudinal deficiency and type IV thumb hypoplasia as well as review of the most relevant literature published in the previous 25 years.Methods: The treatment consisted of placement of an external fixator and subsequent distraction in the radioulnar and proximodistal axis as the initial procedure followed by radialization according to Buck-Gramcko around the 2nd birthday, 10 weeks after the primary procedure. The last step of the treatment was a pollicization of the index finger performed before the 4th birthday.Results: The surgical treatment resulted with a very favorable outcome – a clinically stable wrist, radiologically well aligned carpus over the ulna and an index pollicised in such a manner that enables adequate opposition to the other fingers.Conclusion: A review of literature in the last 25 years shows that radialization of the ulna with a preceding distraction offers benefits over centralization alone. Distraction of the wrist protects the distal ulnar growth plate and thus promotes growth. Soft tissue release with a bilobar flap can also provide a good outcome as wells as a microvascular joint transfer from the 2nd toe whereas the latter requires advanced microsurgical skills.

Index Finger Pollicization Incisions for Congenital Thumb Aplasia: Review and Design of an Educational Anatomical Model for Skin Incisions.

Pollicization of the index finger can be considered the gold standard technique for the treatment of congenital thumb aplasia. The aim of this study was to review the described incisions for pollicization and to create an anatomical framework enabling the study and comparison of these incisions. A systematic review was performed to collect descriptions of incision sets. An anatomical model was created from the two upper limbs of the same cadaver. Thumb aplasia was modeled on both hands of this cadaver by severing the thumbs; an index finger pollicization was performed on one of the two hands. Comparative analysis of scar positions, first web size, and neothumb aspect of each incision set was conducted using a surgical glove modeling the skin. The glove was fitted onto the aplastic model to draw the incisions and then onto the pollicized hand to adjust the resulting flaps after cutting. Twelve articles, two textbooks, and one DVD were included in the review, either containing an original description of incisions, or describing an incision pattern with figures and references to the initial author. A total of five different incision sets, described by Buck-Gramcko, Blauth, Foucher, Ezaki, and Malek, were identified and compared using the anatomical model. This work summarizes five original incisions described for index pollicization in thumb aplasia and presents a standardized and reliable model to study and compare these different sets. The model can be used for educational purposes, either to teach or to optimize an incision set.

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2

ObjectiveJuberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading to elbow restriction. A homozygous mutation in ESCO2 has recently been reported to cause Juberg-Hayward syndrome. Our objective was to investigate the molecular etiology of Juberg-Hayward syndrome in two affected Lisu tribe brothers. Materials and MethodsTwo patients, the unaffected parents, and two unaffected siblings were studied. Clinical and radiographic examination, whole exome sequencing, Sanger sequencing, Western blot analysis, and chromosome testing were performed. ResultsTwo affected brothers had characteristic features of Juberg-Hayward syndrome, except for the absence of microcephaly. The elder brother had bilateral cleft lip and palate, short stature, humeroradial synostosis, and simple partial seizure with secondary generalization. The younger brother had unilateral cleft lip and palate, short stature, and dislocation of radial heads. The homozygous (c.1654C > T; p.Arg552Ter) mutation in ESCO2 was identified in both patients. The other unaffected members of the family were heterozygous for the mutation. The presence of humeroradial synostosis and radial head dislocation in the same family is consistent with both being in the same spectrum of forearm malformations. Chromosome testing of the affected patients showed premature centromere separation. Western blot analysis showed reduced amount of truncated protein. ConclusionOur findings confirm that a homozygous mutation in ESCO2 is the underlying cause of Juberg-Hayward syndrome. Microcephaly does not appear to be a consistent feature of the syndrome.

Clinical Genetics and Dysmorphology: Our Extraordinary Experiences.

Abstract Background: We have previously described our extensive experiences with clinical genetic and dysmorphology in a plethora of publications. In a previous study, we reported 43 children with uncommon, rare and very rare genetic and hereditary disorders whom were observed during three-year period (2016-2018). In that series, very rare genetic, the case number 104 of Sanjad-Sakati-Richardson-Kirk syndrome in the world, the case number 130 of Townes Brocks syndrome and the case number 170 of Coffin Siris syndrome in the world. The aim of this paper is to describe our 2019 extraordinary new experiences with genetic disorders and dysmorphic syndromes. Material and methods: During the year 2019, 37 patients (25 males and 12 female) with genetic disorders and dysmorphic syndromes and were studied at the Children Teaching Hospital of Baghdad Medical City. Their ages ranged from 2 days to sixteen years. Results: Eight patients had Down syndrome (6 boys and 2 girls), 5 patients had Cornelia De Lang syndrome (4 boys and one girl), 2 male patients had Fragile X-syndrome, 2 male patients with Prader Willi syndrome, two patients had Noonan syndrome (a boy and girl), 2 brothers had Goldberg Shprintzen syndrome. Ten patients each had Facioscapulohumeral muscular dystrophy, Virchow Seckel Syndrome, Mowat Wilson syndrome, Toriello-Carey Syndrome, Ruprecht Majewski-Bosma syndrome, congenital myotonic muscular dystrophy (Congenital dystrophia myotonica), extended Michelin tire baby, Congenital absent radii without thumb aplasia, Dandy walker syndrome and the syndrome of congenital facial palsy and unilateral anotia. In addition, six children patients had newly recognized syndromes (five boys and one girl). Many of the patients in this series were previously described or reported. Conclusion: This one-year Iraqi pioneering experience in the fields of clinical genetics and clinical dysmorphology should herald the end of the Dark Age in these fields in Iraq.

Congenital absent radii without thumb aplasia: the first case in Iraq and the early documentation of the condition in the literature

Background: The vast majority of the reported cases of congenital absent radii without thumb aplasia were associated with congenital thrombocytopenia or thrombocytopenia occurring early life. The occurrence of congenital absent radii without thumb aplasia and without evidence congenital thrombocytopenia or thrombocytopenia occurring early life is extremely rare and has not been reported in Iraq. Patients and methods: An Iraqi newborn infant with congenital absent radii without evidence of congenital thrombocytopenia during the first week is presented, and the relevant literatures were reviewed with aim of describing the early documentation of the condition in the medical literature. Results: A newborn infant with congenital absence of the radii without thumb aplasia. The neonate was followed for one week without the occurrence of thrombocytopenia. The rest of physical examination was normal and no other abnormalities could be detected. The parents were consanguineous, but family history was negative for a similar condition. Conclusion: The extremely rare occurrence congenital absence of the radii without thumb aplasia without evidence of thrombocytopenia during the first week of life is reported in an Iraqi newborn.

Bilateral isolated absence of flexor pollicis longus tendon: report on a rare case management

Introduction: In human, the flexor pollicis longus (FPL) is an important muscle for function of the hand. Thumb aplasia and hypoplasia represent a large spectrum of deficiencies. One of the variants of type I thumb hypoplasia is the absence or hypoplastic of FPL tendon without deficiency of other thenar muscle. Although rare, we found several literatures reporting the cases. In treating pediatric thumb disease especially for this condition, we have to carefully diagnose the problem to set our goal of treatment. Methods: We presented a case of 8-year-old male with bilateral inability to flex both thumbs at the interphalangeal (IP) joint. His parents realized this condition after he was involved in school activity. On physical examination, we concluded that the patient has absence of FPL and proceeded for reconstruction with tendon transfer from 4th flexor digitorum superficialis (FDS) and dorsal capsule release. Results: We performed surgery and postoperatively observed the active movement of IP joint. The treatment improved the active flexion of the IP joint around 60 degrees. Conclusion: The absence of IP crease is one of the clear signs of FPL absence or hypoplasia. The usage of dorsal capsule release and tendon transfer in treating FPL absence or hypoplasia without any other thenar anomalies is proven to be adequate and feasible

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 (MIM*603780) and ESCO2 (MIM*609353) genes. Common features are severe growth retardation, limbs shortening and craniofacial abnormalities which may include craniosynostosis. We aimed at unveiling the genetic lesions underpinning the phenotype of two unrelated children with a presumptive BGS diagnosis: patient 1 is a Turkish girl with short stature, microcephaly, craniosynostosis, seizures, intellectual disability, midface hemangioma, bilateral radial and thumb aplasia, tibial hypoplasia, and pes equinovarus. Patient 2 is an Iranian girl born to consanguineous parents with craniosynostosis, micrognathism, bilateral radial aplasia, thumbs, and foot deformity in the context of developmental delay. Upon negative RECQL4 test, whole exome sequencing (WES) analysis performed on the two trios led to the identification of two different ESCO2 homozygous inactivating variants: a previously described c.1131+1G>A transition in patient 1 and an unreported deletion, c.417del, in patient 2, thus turning the diagnosis into Roberts syndrome. The occurrence of a Baller-Gerold phenotype in two unrelated patients that were ultimately diagnosed with RBS demonstrates the strength of WES in redefining the nosological landscape of rare congenital malformation syndromes, a premise to yield optimized patients management and family counseling.

Conception d’un modèle anatomique pour l’étude des différents tracés d’incision des pollicisations de l’index pour le traitement des aplasies congénitales du pouce

Thumb hypoplasia or aplasia represents 4.6% of congenital hand anomalies. In Blauth stages IIIB, IV and V, index finger pollicization can be proposed. Different incisions have been described in literature. Skin incisions are important because they determine the exposure of the underlying structures, the cosmetic result of the new thumb and the functional result of the first web space. The aim of this study was to create an anatomical framework to study different incisions in index finger pollicization for congenital thumb aplasia. The anatomical study was carried out from the two upper limbs of the same cadaver. An anatomical model of thumb aplasia was created on one hand (surgical resection of the thumb, the thenar muscles and the trapeze). A similar resection was carried out on the other hand, followed by index finger pollicization. These two models were then molded with resin plaster. Coming from the same cadaver, they had the similar dimensions (height, length, circumference of fingers and palm). An appropriately sized surgical glove was prepared by cutting of the thumb. The resulting hole was closed with cyanoacrylate glue. The “thumbless” anatomical model was then fitted with this 4-fingered glove to study incisions described by 4 different authors: Foucher, Ezaki, Buck-Gramcko and Blauth. On this template, the gloves were marked and cut along the described landmarks and resulting flaps were then positioned on the pollicized hand. This setup allowed a comparative analysis of scars position, first web space size, new thumb aspect (two or three phalanges) and the amount of cutaneous resection. This work presents a standardized, reliable model to study and compare different skin incisions in index finger pollicization. The model can be used for educational purposes, either to teach or optimize a given incision set.

Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration

BackgroundDiagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions.Case PresentationWe report a male infant born with multiple anomalies including bilateral dysplastic kidneys, cleft palate, bilateral talipes, and bilateral absence of thumbs and first toes. Prenatal testing including chromosome analysis and microarray did not identify a cause for the multiple congenital anomalies. Postnatal diagnostic exome studies (DES) were utilized to find a molecular diagnosis for the patient.Exome sequencing of the proband, mother, and father showed a previously unreported maternally inherited RNA binding motif protein 10 (RBM10) c.1352_1353delAG (p.E451Vfs*66) alteration. Mutations in RBM10 are associated with TARP syndrome, an X-linked recessive disorder originally described with cardinal features of talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava.ConclusionDES established a molecular genetic diagnosis of TARP syndrome for a neonatal patient with a poor prognosis in whom traditional testing methods were uninformative and allowed for efficient diagnosis and future reproductive options for the parents. Other reported cases of TARP syndrome demonstrate significant variability in clinical phenotype. The reported features in this infant including multiple hemivertebrae, imperforate anus, aplasia of thumbs and first toes have not been reported in previous patients, thus expanding the clinical phenotype for this rare disorder.

Defining Features of the Upper Extremity in Holt-Oram Syndrome

To investigate the distinguishing morphological characteristics of children with radial longitudinal deficiency (RLD) in Holt-Oram syndrome (HOS). One hundred fourteen involved extremities in 62 patients with a diagnosis of HOS were identified at 3 institutions. Medical records and radiographs were evaluated. Radial longitudinal deficiency and thumb hypoplasia were classified according to the modified Bayne and Klug classification and Blauth classifications, respectively, when possible. Other unusual or distinguishing characteristics were catalogued. There was bilateral involvement in 84% of patients. The forearm was involved in 81% of the extremities and a shortened distal radius (Bayne and Klug type I RLD) was the most commonly identified forearm anomaly (40%). Radioulnar synostosis was present in 15% of the extremities, all in the proximal forearms with reduced radial heads. Thumb aplasia (Blauth type V hypoplastic thumb) was the most common type of classifiable thumb abnormality and occurred in 35% of involved thumbs. Twenty-seven percent of abnormal thumbs affected were not classifiable according to the Blauth classification, and 19% of involved thumbs (hypoplastic or absent) had first-web syndactyly. The upper extremity in HOS differs from the typical presentation of RLD. The forearm is more often involved and may demonstrate radioulnar synostosis. The thumb is frequently unclassifiable by the Blauth classification and has first-web syndactyly. The presence of radioulnar synostosis and syndactyly of the radial 2 digits in RLD should prompt the hand surgeon to obtain a cardiac evaluation and consider genetic testing for HOS. Diagnostic III.

Encephalocele—radial, cardiac, gastrointestinal, anal/renal anomalies: Novel evidence for a new condition?

The association between encephalocele and radial defects is considered uncommon. These features have been occasionally described separately in certain recurrent conditions such as VACTERL association, oculo-auriculo-vertebral spectrum and Edwards syndrome (trisomy 18). DK-phocomelia is a rare syndrome characterized by both findings. However, Froster-Iskenius and Meinecke [1992, Clin Dysmorphol 1: 37-41] and Kunze et al. [1992, Eur J Pediatr 151: 467-468] reported patients presenting similar malformations. We proposed, through the description of an additional case, that these last patients present the same condition and thus represent a new syndrome. The fetus presented a cranial vault deformity associated with an exuberant herniation of brain content, compatible with occipital encephalocele. Other uncommon features were also identified: microtia of the left ear with atresia of the external auditory canal; radial defect with aplasia of left radius and thumb; findings suggestive of a congenital heart defect and esophageal atresia; hypoplastic lungs and adrenals; thoracolumbar scoliosis; atrophic right kidney; and single umbilical artery. Thus, based on our review, we believe that these patients represent a new condition characterized by encephalocele and radial defects associated with multiple malformations. We propose, that the name "Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies," as suggested by the London Medical Database, or even the name, "Froster-Iskenius and Meinecke syndrome" should be used to indicate these cases. © 2014 Wiley Periodicals, Inc.

VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer

ObjectiveWe present a case of VACTERL association with hydrocephalus (VACTERL-H) in a fetus conceived by in vitro fertilization (IVF) and embryo transfer (ET) and review the literature. Case reportA 35-year-old woman presented with multiple fetal anomalies at 22 weeks of gestation. She and her husband were non-consanguineous and there was no family history of congenital malformations. This was her second pregnancy conceived via IVF-ET. Two embryos had been implanted and only one survived. She underwent chorionic villus sampling at 17 weeks of gestation because of oligohydramnios and advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY, and array comparative genomic hybridization analysis revealed no genomic imbalance. Prenatal ultrasound at 21 weeks of gestation revealed a singleton with fetal biometry equivalent to 18 weeks, ventriculomegaly, a small cerebellum, and a ventricular septal defect. Level II ultrasound showed a single umbilical artery, scoliosis, a right club hand, radial aplasia, and renal agenesis. The parents elected to terminate the pregnancy at 22 weeks of gestation, and a fetus was delivered with bilateral arthrogryposis, right radial aplasia, a club hand and thumb aplasia, hypoplasia of the left thumb, scoliosis, and an imperforate anus. The clinical findings were consistent with the diagnosis of VACTERL-H. Molecular analysis of PTEN, FANCB, and HOXD13 genes revealed no mutation. ConclusionPrenatal diagnosis of radial ray defects in fetuses conceived by assisted reproductive technology should include a differential diagnosis of VACTERL association with anorectal malformation. VACTERL-H may occur in pregnancy after IVF-ET.

Intraoral anastomosis of a prelaminated radial forearm flap in reconstruction of a large persistent cleft palate

In this report, we present a case of a prelaminated radial forearm flap in reconstruction of a large persistent cleft palate with transoral single arterial and three venous anastomoses. A 17-years-old female patient presented a large cleft palate defect and complete dentition, dysmelia of both arms and bilateral thumb aplasia. A radial flap was prelaminated using oral mucosa 5 days prior to transplantation. Five days after flap prelamination, the facial artery and vein, submandibular vein, and a venous branch to the masseter muscle behind the buccinator muscle fibers were exposed through an intraoral incision lateral to the inferior right mucogingival junction. The radial artery, its bilateral accompanying veins, and the cephalic vein of transplanted flap were anastomosed transorally to the facial vessels, submandibular vein, and masseter branch. The vessel pedicle ran through the palatoglossal arch dorsal to the second upper molar. Good flow and flap perfusion were evinced, and further-on successful healing was achieved. The case encourages similar treatment in comparable situations avoiding facial nerve hazard and extraoral scars.

Functional Outcomes of Children With Index Pollicizations for Thumb Deficiency

To gain a comprehensive perspective on outcomes by performing an array of tests on patients who had undergone index pollicization for isolated thumb aplasia or severe hypoplasia in the absence of clinical radial dysplasia; this led us to create a graphical snapshot for future comparison. Another purpose was to compare the function of the contralateral hand and to compare parent and patient perspectives. We evaluated 22 hands (18 patients) by grip as well as lateral and tripod pinch strength tests; the pegboard Functional Dexterity Test (FDT); the Jebsen Hand Function Test (JHFT); and a parent/patient questionnaire. We compared operated hands with both contralateral nonoperated hands and nondominant hands in published normal data. We also compared contralateral nonoperated hands with dominant hands in published normal data, and FDT results and JHFT outcomes in children greater than 6 years old with published normal data. We evaluated questionnaire results. Mean grip as well as lateral and tripod pinch strength in operated hands were 3.4, 1.2, and 1.2 kg, and in normal nondominant hands were 11.7, 4.4, and 3.9 kg, respectively. Patients' contralateral nonoperated hands were weaker than normal dominant hands. Mean timed FDT results in operated hands was 127 seconds, compared with 44 seconds in published normal data. In 2 of 5 JHFT subtests administered, no difference existed between operated hands and published normal data. A graphical snapshot took various outcome measures into consideration and showed a global assessment. Mean parent and patient questionnaire scores were 10 and 22, respectively (best = 12; worst = 60). Comprehensive subjective and objective outcome testing suggested that an optimistic view of function after index pollicization is warranted. A graphical snapshot followed function over time. The contralateral hand fared worse than published normal data. Parent and patient perspectives were favorable. Therapeutic III.

Surgical Treatment of Congenital Hypoplasia of the Thumb

Purpose: We evaluated the results and complications of surgical treatment for congenital thumb abnormalities. Materials and Methods: Between 2002 and 2011, nine thumbs were surgically treated (Pusan National University Hospital, Busan, Korea). There were five males and four females. The mean age of patients at the time of operation was 4.7 years (seven patients were under five years old and two patients were over 10). Five cases of Blauth type V hypoplasia (aplasia) were treated by pollicization (using the Buck-Gramcko technique). Four cases of type I or II hypoplasia were treated by opponensplasty and tendon transfer (for extensor and abductor augmentation). The Mehta scoring system was used for analysis of outcomes. Results: Among nine cases, outcomes were good in five cases, fair in three cases, and poor in one case. Second operations were required due to muscle weakness and metacarpo-phalangeal joint subluxation in three cases of aplasia and one case of hypoplasia. In all cases, the range of active abduction of the thumb was more than 40° and pinch power was at least 40% of that on the normal side at the latest follow up. Conclusion: Surgical reconstruction using pollicization and opponensplasty for congenital thumb aplasia and hypoplasia, with additional surgery for muscle weakness, provided good results both functionally and cosmetically.

Study of Flexion Creases and Ridges Patterns in Patients with Congenital Anomalies of Aplasia and Hypoplasia of Thumb

Present study was carried out on 120 hands in which 60 hands were anomalous having aplasia and hypoplasia of thumb as cases and 60 hands were normal hands as control were studied. Aim of this study was to find out any ridges abnormalities in anomalous hands as ridges differentiation is closely associated with embryogenesis of limbs. Second aim is to find out any specific association between aplasia and hypoplasia of thumb and formation of thenar crease because of close association between presence of thenar volar pad and thenar crease during development of hand. We evaluated fingertip patterns palmar pattern, position of axial triradius, and type of flexion creases either transverse type, transitional type normal type (having distal, proximal transverse and thenar creases) and presence or absence of thenar crease.Results of this study showed in aplasia of thumb there is increase in frequencies of unknown pattern, absence of axial triradius and absence of thenar crease while in hypoplasia of thumb there is increase in frequencies of arches pattern, shifting of axial triradius distally, some cases showed absence of thenar crease and some caseshaving poorly formed thenarcrease.Conclusion of this study shows development of anomalous hand influences development of epidermis and so ridges pattern and formation of thenar crease associated with presence of thenar volar pad In aplasia of thumb there is absence of thenar volar pad so there is no formation of thenar crease.

Nager Acrofacial Dysostosis Syndrome: A Newborn with Bilateral Hearing Impairment

DOI: http://dx.doi.org/10.3329/bjch.v34i2.10220 BJCH2010; 34(2): 67-69

Double aneuploidy with Edwards–Klinefelter syndromes (48,XXY,+18) of maternal origin: Prenatal diagnosis and molecular cytogenetic characterization in a fetus with arthrogryposis of the left wrist and aplasia of the left thumb

Objective To present the prenatal diagnosis and molecular investigation of the parental origin and mechanism of nondisjunction underlying an 48,XXY,+18 karyotype in a fetus with congenital abnormalities, and to review the literature. Materials, Methods, and Results A 42-year-old woman was referred for amniocentesis at 18 weeks of gestation because of advanced maternal age. Prenatal ultrasound revealed bilateral choroid plexus cysts. Amniocentesis revealed a karyotype of 48,XXY,+18. The parental karyotypes were normal. Level II ultrasound revealed a flexion contracture deformity of the left wrist with absence of the thumb. The pregnancy was terminated at 22 weeks of gestation. A 332 g male fetus was delivered with clenched hands, arthrogryposis of the left wrist, aplasia of the left thumb, micrognathia, low-set ears, hypertelorism, rocker-bottom feet, and a normal penis. Quantitative fluorescent polymerase chain reaction assays using polymorphic DNA markers showed a triallelic pattern with a dosage ratio of 1:1:1 (paternal:maternal:maternal) for chromosome 18-specific markers, and a monoallelic pattern of a single maternal allele for chromosome X-specific markers. The fetus inherited two copies of two different maternal alleles on chromosome 18, and two copies of a single maternal allele on chromosome X. The molecular result, along with the karyotype of 48,XXY,+18, was consistent with the occurrence of nondisjunction of chromosome 18 in a maternal meiosis I error and nondisjunction of chromosome X in a maternal meiosis II error or less likely a postzygotic mitotic error. Conclusion The present case provides evidence that abnormal separation of chromosomes 18 and X resulting in double aneuploidy may occur in different cell divisions, and such an occurrence is related to advanced maternal age.