Growth and development in thanatophoric dysplasia

MacDonald, Ian M.; Hunter, Alasdair G. W.; MacLeod, Patrick; MacMurray, S.Brock

doi:10.1002/ajmg.1320330420

Cited by 54 publications

(36 citation statements)

References 7 publications

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“…Most of these babies are stillborn, but if they are alive at birth, the majority of them die within a few days due to respiratory insufficiency. Recently, MacDonald [11], Tonoki [12] and Stenvold [13] cited patients who lived for 5.2 years, 212 and 169 days, respectively, with death occurring due to respiratory failure. According to MacDonald et al, there was one more patient who remained alive until March 1989 at the age of 4.75 years [11].…”

Section: Discussionmentioning

confidence: 99%

Thanatophoric Dwarfism: A Report of Three Cases

Sivasankaran¹,

Omojola²,

Mir³

et al. 1992

Ann Saudi Med

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S Sivasankaran, MF Omojola, NA Mir, P Pathak, Thanatophoric Dwarfism: A Report of Three Cases. 1992; 12(1): 96-100Thanatophoric dwarfism (TD) is a lethal bone dysplasia characterized by severe shortening of limbs with dwarfism. The incidence is about one in 100,000 births [1]. Males are commonly affected [2]. Antenatally, TD can be diagnosed by ultrasonography as early as 13 weeks of gestation [3][4][5][6][7]. There is an association of polyhydramnios with this condition [1]. The majority of the cases reported have been born by cesarean section mainly because of large heads and breech presentation. TD can occur as a separate entity or in association with other syndromes such as "clover leaf" deformity [8,9]. Case Reports Case 1This baby girl was born to a 25-year-old Saudi woman, gravida 5, para 5. All the previous children were normal and healthy. Apart from a previous twin pregnancy, there was no other significant antenatal or family history. The mother was admitted at term without previous booking. Ultrasound examination prior to delivery revealed polyhydramnios, breech presentation, and normal biparietal diameter with marked shortening of all limbs. She was delivered by cesarean section.On examination (Figure 1), the baby was 40 cm in length. The head circumference was 36.5 cm with a wide anterior fontanelle. There was frontal bossing with a depressed nasal bridge. The limbs were markedly short with excessive skin folds. The chest was narrow and abdomen prominent. She was grossly hypotonic and had severe respiratory distress requiring ventilatory support.A "bodygram," a full length body radiograph (Figure 2), showed typical short stature. Limb bones were all short with flaring of the metaphysis. The shafts were bowed, particularly in the femora, demonstrating the classical "telephone receiver" configuration which has been well documented. There was a wide gap between the bone ends where the joints should normally be. The hands were stubby with very short metacarpals which had flared ends. The phalanges were correspondingly small. The pelvis showed flat acetabular roof with wide triradiate cartilage and symphysis pubis. The spine showed planivertibrae with "H" configuration of the lumbar vertebrae. The ribs were short enclosing a narrow thorax, and like other bones, there was flaring of the rib ends. The clavicles were similarly affected while the scapula assumed an irregular outline. Computed tomographic (CT) scan of the head (Figures 3 and 4), obtained shortly after birth, showed patency of all the sutures with mild temporal bulging. The lateral ventricles were rather wide. The third and fourth ventricles were normal. The quadrigeminal cistern was also wide along with the superior vermian cistern. The gyri were large with short sulci. The interhemispheric fissure was prominent. Both occipital lobes showed prominent large sulci. There was a large scalp swelling over the right frontal bone extending over the orbit without any underlying body defects. She died 48 hours after birth.

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Section: Discussionmentioning

confidence: 99%

Thanatophoric Dwarfism: A Report of Three Cases

Sivasankaran¹,

Omojola²,

Mir³

et al. 1992

Ann Saudi Med

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“…Without proper counseling, families who had a previous child affected with thanatophoric dysplasia would be anxious to think of a future pregnancy. 5 If the diagnosis is made after the birth of the baby, management is solely supportive, as death occurs from respiratory insufficiency within hours to days.…”

Section: Polyhydramnios Is Commonly Associatedmentioning

confidence: 99%

Thanatophoric dysplasia, an enigmatic dilemma: a case report

Rai

Gaikwad

Bajaj

et al. 2016

Int J Reprod Contracept Obstet Gynecol

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“…A never-competent patient is one who never had this decision-making capacity and never will have it in the future. 4 McCormick uses as an example the traditional obligation to preserve life. He argues that the Christian tradition Ahas always strived to maintain a middle course between two extremes: medicalmoral utopianism, i.e., sustaining life at all costs and with all means because when life is over everything is over and death is an absolute end, and its opposite, medical-moral pessimism, i.e., there is no point in sustaining life if it is accompanied by suffering, lack of function, etc.…”

Section: Case Study -Thanatophoric Dysplasiamentioning

confidence: 99%

“…4 Few, if any, physicians are willing to make substantive criteria when it comes to treatment decisions for handicapped newborns. On the other hand, moral theologians, in their concern to avoid total normlessness and arbitrariness, can easily become quite dogmatic.…”

Section: Introductionmentioning

confidence: 99%

Decision-Making in Neonatology: An Ethical Analysis from the Catholic Perspective

Clark¹

2012

Contemporary Issues in Bioethics

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Growth and development in thanatophoric dysplasia

Cited by 54 publications

References 7 publications

Thanatophoric Dwarfism: A Report of Three Cases

Thanatophoric Dwarfism: A Report of Three Cases

Thanatophoric dysplasia, an enigmatic dilemma: a case report

Decision-Making in Neonatology: An Ethical Analysis from the Catholic Perspective

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