A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands [ncbi.nlm.nih.gov]

We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate. And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed. [unboundmedicine.com]

Article / Publication Details First-Page Preview Abstract A 21-month-old boy with multiple congenital anomalies was found to have 49 chromosomes with an XXXXY sex chromosome constitution. [karger.com]

In addition, almost all patients had muscular hypotonia, radioulnar synostosis, white matter anomalies, fifth-finger clinodactyly, recurrent respiratory infections in early childhood and teeth anomalies. IQ scores ranged between 40 and 70. [ncbi.nlm.nih.gov]

respiratory infections during growth and delayed puberty. [edmcasereports.com]

We report the case of a 19-year-old boy, presenting several congenital malformations (facial dysmorphisms, cardiac and musculoskeletal abnormalities), mental retardation, recurrent respiratory infections during growth and delayed puberty. [scienceopen.com]

Ventriculomegaly and congenital cardiac defects (patent ductus arteriosus, atrial septal defect, and peripheral pulmonary stenosis) were noted. He has severe atopic dermatitis with high IgE levels and psychomotor retardation. [ncbi.nlm.nih.gov]

He had coarse facial features, cryptorchidism of the right testis, genu valgus deformities, and patent ductus arteriosus which are known associations of 49,XXXXY syndrome. [ncbi.nlm.nih.gov]

A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, polyuria and polydipsia. He had high glucose concentrations, without ketonuria, and hypergonadotropic hypogonadism. [ncbi.nlm.nih.gov]

A 28-year-old man presented with mental retardation, peculiar facial features, radioulnar synostosis, hypogonadism, aplasia of the right kidney, a moderate degree of proteinuria, and peripheral cyanosis. [ncbi.nlm.nih.gov]

A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands [ncbi.nlm.nih.gov]

This man presented with facial features (epicanthus, hypertelorism, up-slanting palpebral fissures), microorchidism and features of chronic hypoandrogenism with muscular weakness, sparse body hair, dry skin with abnormal healing of skin wounds. [jle.com]

Other features may include cleft palate, club feet, severely impaired speech, respiratory conditions, behavioral problems, short or broad neck, low birth weight, hyperextensible joints, short stature, narrow sholders, round face in infancy,(Look very [web.archive.org]

Skeletal anomalies include: genu valgus pes cavus fifth finger clinodactyly The effects on the males also include: cleft palate club feet respiratory conditions short or/and broad neck low birth weight hyperextensible joints short stature narrow shoulders [psychology.wikia.com]

Skeletal anomalies include: Genu valgum Pes cavus Fifth finger clinodactyly The effects also include: Cleft palate Club feet Respiratory conditions Short or/and broad neck Low birth weight Hyperextensible joints Short stature Narrow shoulders Coarse features [ipfs.io]

These skeletal anomalies include: Genu valgum Pes cavus Fifth finger clinodactyly The effects also include: Cleft palate Club feet Respiratory conditions Short or/and broad neck Low birth weight Hyperextensible joints Short stature Narrow shoulders Coarse [en.wikipedia.org]

Other features may include cleft palate, club feet, severely impaired speech, respiratory conditions, behavioral problems, short or broad neck, low birth weight, hyperextensible joints, short stature, narrow sholders, round face in infancy,(Look very [web.archive.org]

face in infancy [3] Pathophysiology As its name indicates, a person with the syndrome has one Y chromosome and four X chromosomes on the 23rd pair, thus having 49 chromosomes rather than the normal 46. [ipfs.io]

face in infancy [5] Cognitive and Developmental [ edit ] Much like Down syndrome, the mental effects of 49,XXXXY syndrome vary. [en.wikipedia.org]

Typical clinical features include coarse faces, skeletal abnormalities, hypogenitalism and severe learning difficulties. Common ocular features include hypertelorism, epicanthic folds and up-slanting palpebral apertures. [ncbi.nlm.nih.gov]

We report a case of 49, XXXXY syndrome confirmed by chromosomal study in neonatal period, whose clinical features included a coarse face, short neck, micropenis, and other multiple minor anomalies including simian creases. [kjp.or.kr]

Clinical features of the syndrome are: coarse face, microcephaly, distinct dysmorphic features, short stature and an IQ ranging between 20 to 60 points. Recently, increased rates of brain anomalies were also described in this group of patients. [ashg.org]

A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, polyuria and polydipsia. He had high glucose concentrations, without ketonuria, and hypergonadotropic hypogonadism. [ncbi.nlm.nih.gov]

We describe the neurocognitive profile and structural anatomy of language pathway in a 2-year-old boy with 49, XXXXY syndrome with expressive aphasia. Retrospective chart review of the patient was performed. [ncbi.nlm.nih.gov]

We describe the neurocognitive profile and structural anatomy of language pathway in a 2-year-old boy with 49, XXXXY syndrome with expressive aphasia. Retrospective chart review of the patient was performed. [ncbi.nlm.nih.gov]

He had high glucose concentrations, without ketonuria, and hypergonadotropic hypogonadism. Ophthalmic examination revealed a polar cataract in both eyes and increased intraocular pressure in the left eye. [ncbi.nlm.nih.gov]