What Gender Will a Baby With Patau Syndrome

BMJ Case Rep. 2012; 2012: bcr0620114381.

Rare affliction

Longevity and Patau syndrome: what determines survival?

Sherina Peroos

¹University College London, London, Uk

Elizabeth Forsythe

²Department of Kentish Town Wellness Middle, University College London Infirmary, London, Great britain

Jennifer Harriet Pugh

¹University College London, London, UK

Peter Arthur-Farraj

¹Academy College London, London, United kingdom

Deborah Hodes

²Department of Kentish Town Wellness Eye, University Higher London Hospital, London, UK

Abstract

The authors written report of an viii-year-old girl with non-mosaic Patau syndrome. The median life expectancy of Patau syndrome is seven–10 days, and ninety% die in the first yr of life. Survival is oftentimes attributed to mosaicism and the severity of associated malformations. We delineate the developing phenotype and review the literature discussing potential contributory factors to longevity.

Background

Trisomy 13 was first described in 1960.^one Information technology is i of the least common autosomal trisomies amid alive births with an estimated prevalence of 1:12 000–1:29 000 in newborns.^{2 3} It is a heterogenous disorder encompassing multiple malformations including key nervous system, cardiac and urogenital anomalies. Characteristic dysmorphic features include microphthalmia or anophthalmia, cleft lip and palate, and polydactyly.^{one 4} Median survival time for patients with trisomy xiii is betwixt 7 and 10 days and it is reported that between 86% and 91% of alive-built-in patients with Patau syndrome do not survive beyond 1 year of life.⁵ Survival beyond the showtime year has been associated with mosaicism.⁶ At that place are only viii published cases of patients with total trisomy xiii over the age of 5 years.

Here we report of an 8-year-old girl (101 months) of Somalian origin diagnosed with total trisomy 13. She is currently the 3rd longest surviving reported case of full trisomy 13 in the United kingdom and the eighth longest surviving worldwide.

Instance presentation

This girl is the third-born child of not-consanguineous Somalian parents. At the time of birth, the mother was 27 and the father 29 years old. In that location was no history of miscarriages and their five other children are healthy.

A xx-calendar week anomaly scan showed fetal cardiac disproportion. Subsequent sonography revealed normal fetal growth, bilateral duplex kidneys and calcification within the peel, heart, liver and placenta. Amniocentesis and further investigation was declined.

The girl was born at 41 weeks gestation by normal vaginal delivery post-obit spontaneous rupture of membranes. Apgar scores were eight at 1 and v min, respectively. Birthweight was 2433 m (0.4th centile) and head circumference 32 cm (0.fourth centile).

On examination, the patient was noted to take multiple dysmorphic features consistent with Patau syndrome including a prominent glabella, hypertelorism, low-set ears, microphthalmia, bilateral cataracts, cutis aplasia of the scalp, aberrant ballocks with large labia and a postaxial accessory digit on both hands and her left pes (figures 1– ​ 3). Fertilisation of in situ hybridisation analysis of a buccal smear was negative for mosaicism. Cytogenetic analysis was undertaken on cultured peripheral blood lymphocytes, which revealed an aberrant female person karyotype: 47, 20, +13, non-mosaic.

Photograph of the patient at six years and 5 months. Front end contour photo showing dysmorphic features consistent with Patau syndrome including prominent glabellae, orbital hypertelorism, low-set ears and microphthalmia.

Photo of the patient at six years and five months. Photograph reveals a postaxial accessory digit on the left foot.

Photo of the patient at 6 years and v months. Photograph reveals a postaxial accessory digit on both hands.

She was admitted to infirmary for the beginning 4 weeks of life for management of feeding difficulties and jaundice. A cranial ultrasound scan revealed an aberrant corpus callosum, aberrant cortical folding and a small cerebellum. She was as well noted to have bilateral duplex kidneys and was started on prophylactic antibiotics. An echocardiogram revealed a structurally normal heart.

At 10 months she developed seizures, simply no abnormality was detected on EEG. At 5 years and 9 months, seizure activity became more frequent and treatment with clobazam and subsequently valproate was started with limited effect. At 6 years and 2 months, a CT scan revealed large bilateral arachnoid cysts and underlying agenesis of the corpus callosum.

The patient was unable to tolerate feeds due to a submucous cleft palate and has been receiving thickened feeds since the age of ii to subtract the take chances of reflux and aspiration.

On ophthalmology review aged 14 months, she was institute to take almost no vision. She appeared to have limited light/night perception, but showed no visual responses in normal room light. She generally kept her eyes closed. Test of her hearing revealed a moderate hearing loss of ∼30/lx Db, and she was given a hearing help which she tolerates intermittently.

Issue and follow upward

This patient has severe global developmental filibuster, with an overall developmental historic period of 3 months. She is able to move around and coil over when lying on the floor, but is unable to sit or stand up without assistance. Her grasp reflex is still present and she vocalises using sounds but has no receptive or expressive language.

Discussion

It is unknown why some individuals with full trisomy 13 can live up to their first decade and beyond, in view of the median life expectancy beingness 7–ten days. Curiously, race and gender appear to subtly impact survival rates, with females and Afro-Carribeans having longer life spans,⁵ although reasons for this remain unclear.

Only 46% of long-lived total trisomy 13 patients are reported to have cardiac defects in dissimilarity to 50–85% of all Patau syndrome cases.^{6 7} Our patient did non have any cardiac defects. The apparent lower incidence of middle defects in long-lived patients with full trisomy 13 may potentially be a factor underlying their survival.

Facial clefting has only been reported in one other child with full trisomy 13 surviving beyond 5 years.⁶ The collective incidence of crack lip or palate in all subtypes of trisomy 13 is betwixt 43% and 80%.^{half-dozen–8} Facial clefting can be associated with other midline defects, which may adversely affect the survival of an affected individual.^eight The lower incidence of cleft lip/palate in the long-lived patient population with trisomy thirteen may reflect a lower incidence of other midline defects in these patients. We have fully documented the clinical features of our patient in comparison to all other total trisomy 13 reported cases over the historic period of 5 years old (table ane).

Table i

Clinical features of reported long-surviving full trisomy 13 patients^{vi 7 nine–xvi}

Birth details and dysmorphic features	Current patient	Percentage of patients with full Patau syndrome over the age of five (n=viii)	Frequency of clinical features in all infants with trisomy 13
Birth time	Term	–	–
Birth weight	2433 g	–	–
Neonatal asphyxia	+	38–75	–
Pregnancy complications	−	38	–
Brain
Microcephaly/central nervous system defects	+	88–100	75
Holoprosencephaly	−	0	60–lxx
Seizures	+	62–88	25–50
Learning disabilities	+	100	100
Eyes
Microphthalmia	+	75	sixty–88
Coloboma/cataracts	+	63–75	33%
Ears
Hearing loss	+	38–63	50%
Low-set ears	+	75–100	80–92%
Aberrant auricles	−	63–88	–
Head and confront
Scalp defect	+	25–88	44
Sloping brow	+	75–100	xvi
Broad, apartment olfactory organ	+	75–100	–
Cleft lip and/or palate	+	13	43–80
Protruding lower lip	+	35–63	–
Cardiac
Center defects	−	50–69	80–84
Genitourinary
Renal malformations	+	38–63	37
Genital anomalies	+	75	30
Musculoskeletal
Polydactyly	+	38	sixty–76
Flexion deformity of fingers	+	63–88	68%
Prominent calcaneus	+	63–88	28
Joint contractures	+	38–88	−
Kyphosis, scoliosis	+	13–75	–
Diet
Failure to thrive	+	88–100	87–100
Recurrent infections	+	88–100	–

Learning points

• It has been speculated that aggressive medical care may play a role in the increasing life expectancy of patients with trisomy 13.^nine Conversely, Rasmussen et al ⁵ have suggested that the average life expectancy of the trisomy 13 patient population has decreased over time, and that this may be due to less aggressive medical care provided as clinicians become increasingly aware of the poor prognosis.

• Some cases of mosaic trisomy 13 and trisomy xiii due to translocations take been associated with a longer average life expectancy than total trisomy 13 patients.^6–17 The cases of long-lived Patau syndrome reported in the literature accept largely relied on cytogenetic analysis of peripheral lymphocytes for diagnosis.¹⁸ Therefore, a theoretical possibility exists that the long-lived cases may take a tissue-express mosaicism that remains undiagnosed. However, as in this case, farther investigation is not clinically indicated.

• This instance demonstrates the severe inability expected from a long-lived kid with Patau syndrome. We believe information technology is paramount that the clinical findings are documented in these cases to do good other affected individuals, and to elucidate the factors contributing to long survival in this rare disorder.

Footnotes

Competing interests: None.

Patient consent: Obtained.

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Source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543265/

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