The diagnosis could not be established prenatally but was established from the X-ray and pathology exam. The final diagnosis was: Neonatal Osseous Dysplasia also called Atelosteogenesis type II
Findings: Severe micromelia with ulnae and fibulae reduced to a triangular osseous remnant, clubbed humerus with proximal metaphyseal widening; irregular short curved radius, midface hypoplasia, spinal abnormalities, small thorax, talipes equinovarus and abducted thumbs and toes, platyspondyly, lumbosacral hyperlordosis or horizontal sacrum (3,4,5,6)
Laboratory abnormalities: Pathologic examination of cartilage shows lacunar halos around chondrocytes. Resting cartilage extremely abnormal; matrix attenuated with many cystic areas containing only radiating threads of matrix
Associated anomalies: Depressed nasal bridge, cleft palate, oligodactyly, clubfoot, short and bowed long bones, trachea or laryngeals anomalies, cervical kyphosis with hypoplastic and dysplastic changes of the spine.
Prognosis: Stillborn or neonatal death due to respiratory distress in all cases.
Management: Early ultrasound diagnosis allows pregnancy termination if opted by the parents, but a precise prenatal diagnosis of this lethal condition may be difficult.
OMIM : 256050
History: De la Chapelle et al. described an unrecognized skeletal dysplasia in a stillborn son and daughter of consanguineous parents. The limbs were strikingly short. The fibula and ulna were almost triangular. The middle phalanges were curiously double. Both had cleft palate and patent foramen ovale and ductus arteriosus. The boy had endocrine and hematologic abnormalities. A relationship of this skeletal dysplasia to mesomelic dwarfism of the hypoplastic ulna, fibula and mandible types (249700) has been suggested.
Differential diagnosis: (7,8,9,10,11,12,13,14,15,16,17)
most difficult with other types of Atelosteogenesis
Type I
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Type II
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Type III
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Long bones
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Less shortening than type II, · humerus: absent distal parts, · femur: distally tapered · fibula: absent
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Marked shortening with widening of the metaphyses · humerus: V or U shaped distal end · femur: distal end rounded · fibula: present in all cases
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Club or globular humeri with precocious proximal epiphyseal ossification. Absent fibula. (18)
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Hands/feet
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All tubular bones hypoplastic and dysplastic with delayed mineralization
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Tubular bones severe hypoplastic and dysplastic; second and third metacarpals and metatarsals larger than remaining bones
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Harmonious ossification of tubular hand bones, bifid digits, Tombstone-shaped proximal phalanges, widened distal phalanges
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Pelvis
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Nearly normal
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Iliac bones almost round, irregular outline of iliac crest
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Vertical block-like ischia
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Spine
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Incomplete ossification of vertebral bodies with coronal clefting
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Cervical kyphosis with hypoplastic and dysplastic changes; lumbosacral hyperlordosis
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Segmentation defects in cervical spine with double curve (S) configuration,
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Histopathology
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Resting cartilage intact but hypocellular areas in which giant cells may be found. The proliferative and hypertrophic zone is shortened and distorted by prolongation of relatively acellular areas between the cell columns.
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Resting cartilage extremely abnormal; matrix attenuated with many cystic areas containing only radiating threads of matrix.
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Mild hypocellularity; otherwise normal.
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Adapted from Atelosteogenesis, type I
References
1. De la Chapelle, A.; Maroteaux, P.; Havu, N.; Granroth, G. : Une rare dysplasie osseuse letale de transmission recessive autosomique. Arch. Franc. Pediat. 29: 759-770, 1972.
2. Hastbacka, J.; Wilcox, W. R.; Superti-Furga, A.; Rimoin, D. L.; Cohn, D. H.; Lander, E. S. : Atelosteogenesis type II is caused by mutations in the dystrophic dysplasia sulfate transporter gene (DTDST). Am. J. Molec. Genet. 57: A48 only, 1995.
3. Nores, J. A.; Rotmensch, S.; Romero, R.; Avila, C.; Inati, M.; Hobbins, J. C. Atelosteogenesis type II: sonographic and radiological correlation. Prenatal Diag. 12: 741-753, 1992.
4. Rossi, A.; van der Harten, H. J.; Beemer, F. A.; Kleijer, W. J.; Gitzelmann, R.; Steinmann, B.; Superti-Furga, A. : Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. Hum. Genet. 98: 657-661, 1996.
5. Salonen, R. : Neonatal osseous dysplasia I: second report. Prog. Clin. Biol. Res. 104: 171-172, 1982.
6. Sillence, D.; Kozlowski, K.; Rogers, J.; Sprague, P.; Cullity, G.; Osborn, R. Atelosteogenesis: evidence for heterogeneity. Pediat. Radiol. 17: 112-118, 1987.
7. Stern, H. J.; Graham, J. M., Jr.; Lachman, R. S.; Horton, W.; Bernini, P. M.; Spiegel, P. K.; Bodurtha, J.; Ives, E. J.; Bocian, M.; Rimoin, D. L. : Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. Am. J. Med. Genet. 36: 183-195, 1990.
8. Whitley, C. B.; Burke, B. A.; Granroth, G.; Gorlin, R. J. : De la Chapelle dysplasia. Am. J. Med. Genet. 25: 29-39, 1986.
9. Hastbacka J, Salonen R, Laurila P, de la Chapelle A, Kaitila I Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers. J Med Genet. 1993 Apr;30(4):265-8.
10. Kaitila I, Hastbacka J, de la Chapelle A, Sistonen P. [Defective gene causing diastrophic dysplasia has been localized]Duodecim. 1991;107(17):1418-9
11. Jung C, Sohn C, Sergi C. Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity.Prenat Diagn. 1998 Apr;18(4):378-83.
12. Superti-Furga A. Achondrogenesis type 1B.J Med Genet. 1996 Nov;33(11):957-61. Review.
13. Tennstedt C, Bartho S, Bollmann R, Schwenke A, Nitz I, Rothe K.
14. Gembruch U, Niesen M, Kehrberg H, Hansmann M. Related Articles Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound.Prenat Diagn. 1988 Sep;8(7):539-45.
15. Gollop TR, Eigier A. Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks. Am J Med Genet. 1987 Jun;27(2):321-4.
16. Kaitila I, Ammala P, Karjalainen O, Liukkonen S, Rapola J. Early prenatal detection of diastrophic dysplasia.Prenat Diagn. 1983 Jul;3(3):237-44.
17. Kaitila I, Ammala P, Karjalainen O, Liukkonen S, Rapola J. [Detection of diastrophic dysplasia in early pregnancy]Duodecim. 1983;99(14):861-8.
18. Taybi H. Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias. 3er ed. Year Book Medical Publishers,Inc. 1990. pag. 689 -691