Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor

Ravel, Thomy de; Legius, Eric; Brems, H.; Hoestenberghe, R. Van; Gillis, P; Fryns, Jean‐Pierre

doi:10.1097/00019605-200110000-00005

Cited by 20 publications

(6 citation statements)

References 10 publications

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“…Hence, we recognize the need for further description of the neurodevelopment and academic performance of individuals with mosaic trisomy 22. Also of significance, all patients reported before 2003 [Wertelecki et al, ; Lessick et al, ; Woods et al, ; De Pater et al, ; Basaran et al, ; De Ravel et al, ] had some degree of developmental delay. IQ was reported in three patients and it ranged from 55 to the low 80s [Wertelecki et al, ; Ruiter et al, ; Lewis et al, ], suggesting the potential for ascertainment bias.…”

Section: Discussionmentioning

confidence: 95%

Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature

Abdelgadir

Nowaczyk

2013

American J of Med Genetics Pt A

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Mosaic trisomy 22 is known to be compatible with life. However, there are fewer than 20 reports in the literature of live born children and even fewer reports describing their neurodevelopmental outcome. We report on two girls with mosaic trisomy 22 and normal development at ages 7 and 5 years. Both girls had characteristic dysmorphic features including flat nasal bridge, preauricular pits, epicanthic folds, and 5th finger clinodactyly. They also had left-sided hemihyperplasia and short stature. In addition, one of them also had ventricular non-compaction and probable asplenia, two unique features not previously reported. In review of the literature, prenatal and postnatal growth failures were the most common complications of mosaic trisomy 22. Skeletal abnormalities including body asymmetry and 5th finger clinodactyly were also common. While the majority of patients with mosaic trisomy 22 had abnormal cognitive development, normal development has also been documented. It is conceivable that children with trisomy 22 mosaicism, with minimal physical findings and normal development are under diagnosed. Our patients further highlight this potential for normal cognitive outcome and draw attention to possible skewing of unfavorable prognosis for the final developmental outcome in this population. Appropriate information regarding developmental outcome is critical for genetic counseling, especially in prenatal situations.

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Section: Discussionmentioning

confidence: 95%

Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature

Abdelgadir

Nowaczyk

2013

American J of Med Genetics Pt A

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“…Partially overlapping microduplications on 14q23.1 were identified in two families with autosomal dominant OAVS;46 47 one of these families included two first-degree relatives with clinical features of OAVS and Branchio-oto-renal syndrome; hence, the region 14q23.1 might harbour candidate genes for OAVS and additional first and second pharyngeal arch developmental disorders. Anomalies in 22q have been frequently documented in patients with OAVS, particularly the 22qter deletion,51 22q11.2 deletions,52–54 the 22q11.1-q11.21 (Cat-eye) region,56 57 and a partial 22 trisomy (47,XX,+der(22)t(11;22)(q23;q11)), which duplicates the 22q11 region 66. Chromosomal mosaicism for trisomy 2266 has also been described, making this region a good candidate for some cases of OAVS.…”

Section: Overview Of Oculo-auriculo-vertebral Spectrummentioning

confidence: 99%

“…Anomalies in 22q have been frequently documented in patients with OAVS, particularly the 22qter deletion,51 22q11.2 deletions,52–54 the 22q11.1-q11.21 (Cat-eye) region,56 57 and a partial 22 trisomy (47,XX,+der(22)t(11;22)(q23;q11)), which duplicates the 22q11 region 66. Chromosomal mosaicism for trisomy 2266 has also been described, making this region a good candidate for some cases of OAVS.…”

Section: Overview Of Oculo-auriculo-vertebral Spectrummentioning

confidence: 99%

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

et al. 2014

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Oculo-auriculo-vertebral spectrum (OAVS, OMIM 164 210) is a developmental disorder primarily involving structures derived from the first and second pharyngeal arches during embryogenesis. The phenotype is clinically heterogeneous and is typically characterised by abnormal development of the ear, mandible anomalies and defects of the vertebral column. OAVS may occur as a multiple congenital abnormality, and associated findings include anomalies of the eye, brain, heart, kidneys and other organs and systems. Both genetic and environmental factors are thought to contribute to this craniofacial condition, however, the mechanisms are still poorly understood. Here, we present a review of the literature on OAVS, discussing what is known about the aetiology, candidate loci, possible mechanisms and the range of clinical features that characterise this condition. We also comment on some important aspects of recurrence risk counselling to aid clinical management.

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“…Hemidystrophy and unilateral congenital anomalies should prompt a cytogenetic analysis on skin [Wertelecki et al, 1986; Woods et al, 1994]. Chromosomal imbalances may lead to poor tissue growth resulting in asymmetry [Woods et al, 1994; De Ravel et al, 2001]. Turner [Wertelecki et al, 1986; Lund and Tranebjaerg, 1990; Crowe et al, 1997], Down [Lund and Tranebjaerg, 1990], and Noonan [Pagon et al, 1977] syndromes would share some similarities with mosaic trisomy 22 and have been proposed as differential diagnoses.…”

Section: To the Editormentioning

confidence: 99%

Mosaic trisomy 22: Report of a patient with normal intelligence

Florez

Lacassie

2004

American J of Med Genetics Pt A

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Mosaic trisomy 22 is a rare chromosomal disorder. The estimated incidence of mosaic and non-mosaic trisomies 22 in spontaneous abortions and in CVS would range from 9 to 20 cases per 100,000 pregnancies [Wolstenholme, 1996]. The characteristic features are growth retardation (intrauterine growth retardation, failure to thrive, short stature), constant MR, hemidystrophy, and webbing of the neck. Frequent findings include ocular and cutaneous pigmentary disorders and craniofacial anomalies such as macrocephaly, prominent forehead, midface hypoplasia, hypertelorism, drooping eyelids, upslanted palpebral fissures, epicanthal folds, proptosis, hearing loss, dysplastic ears, preauricular tags/sinus, flat nasal bridge, short nose, smooth long philtrum, small mouth, micrognathia, cleft palate, and notched central upper incisors. Limb anomalies are also common and include cubitus valgus, clinodactyly, brachydactyly, syndactyly, abnormally long fingers or absent fingers and toes, absent/hypoplastic/ dysplastic nails, and hypermobile joints. Other anomalies include congenital heart defects, kidney, and genital disorders De Pater et al., 1997;Basaran et al., 2001]. All the cases reported in the literature susceptible to intellectual evaluation present with MR Osztovics and Ivady, 1977;Pagon et al., 1977Pagon et al., , 1979Dulitzky et al., 1981;Wertelecki et al., 1986;Lessick et al., 1988;Lund and Tranebjaerg, 1990;Woods et al., 1994;Crowe et al., 1997;de Pater et al., 1997;Basaran et al., 2001;Ruiter et al., 2003]. We report a 5-year-old girl with characteristic features and normal developmental milestones and intelligence.The proposita is a 5-year-10-month-old WF born to a 35-yearold father and a 26-year-old mother. The parents are healthy, nonconsanguineous, and their family history is negative for congenital anomalies. The mother has had two other pregnancies with reportedly normal sons. The proband was born full term, at home with midwife assistance, after an uncomplicated pregnancy. She was SGA with a BW of 1,800 g (2nd centile). At age 3 months she underwent closed surgery for a severe pulmonary valve stenosis. At age 18 months she was diagnosed with a congenital hemihypertrophy with the right leg being 2.3 cm longer on the scanogram. Renal ultrasounds had been negative for Wilms tumor or any other abnormalities. She has had multiple respiratory illnesses, including asthma, Grant sponsor: Fazio-Lacalle family.

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Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor

Abstract: We report two cases with hemifacial microsomia with body asymmetry associated with mosaic trisomies. The child with mosaic trisomy 9 had skin pigmentary changes. In the boy with mosaic trisomy 22, the extra chromosome 22 originated from a maternal meiosis I error.

Cited by 20 publications

References 10 publications

Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature

Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

Mosaic trisomy 22: Report of a patient with normal intelligence

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