Definition: These syndromes associate growth retardation with microcephaly and various facial anomalies[1],,[3],[4],[5],[6]. The number of reported case is small and the difference between the subtypes probably not identifiable by prenatal ultrasound, which is the reason I lumped them altogether.

Synonyms: Osteodysplastic primordial dwarfism, type I, brachymelic primordial dwarfism, Taybi-Linder syndrome, cephaloskeletal dysplasia, low-birth-weight dwarfism with skeletal dysplasia.

Incidence:  Less than 50 cases have been reported.

Etiology: Sporadic with possible autosomal recessive inheritance².

Recurrence risk: Unknown.

Diagnosis: The findings include growth retardation with microcephaly, micrencephaly, lissencephaly, micrognathia and moderately short limbs[7]. Type II-III may have platyspondyly.

Pathogenesis: Unknown.

Genetic anomaly: Unknown.

Associated anomalies: Include beaked nose, large eyes, dysplastic ears, clinodactyly, dysgenesis of the corpus callosum, focal renal medullary dysplasia, small iliac wings with flat acetabular angles, coxa vara, V-shaped distal femoral metaphyses, triangular distal femoral epiphyses, pseudoepiphyses of metacarpals, short first metacarpals, and brachymesophalangy of the fifth digit[8],[9].

Differential diagnosis: Aneuploidies (trisomy 13, 18).

Prognosis: Not known. Most children have died within the first year.

Management: Termination of pregnancy can be offered before viability, otherwise no alteration of prenatal care are suggested.

References:

[1] Majewski F, Goecke TO Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. Am J Med Genet 1998 Oct 30;80(1):25-31

[2] Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourliere B, Ayme S, Philip N Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. Am J Med Genet 1998 Oct 30;80(1):16-24

[3] al Gazali LI, Hamada M, Lytle W Microcephalic osteodysplastic primordial dwarfism type II. Clin Dysmorphol 1995 Jul;4(3):234-8

[4] Haan EA, Furness ME, Knowles S, Morris LL, Scott G, Svigos JM, Vigneswaren R Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. Am J Med Genet 1989 Jun;33(2):224-7

[5] Majewski F, Stoeckenius M, Kemperdick H Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III. Am J Med Genet 1982 May;12(1):37-42

[6] Majewski F, Ranke M, Schinzel A Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet 1982 May;12(1):23-35

[7] Kozlowski K, Donovan T, Masel J, Wright RG Microcephalic, osteodysplastic, primordial dwarfism. Australas Radiol 1993 Feb;37(1):111-4

[8] Berger A, Haschke N, Kohlhauser C, Amman G, Unterberger U, Weninger M Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism. J Med Genet 1998 Jan;35(1):61-4

[9] Spranger S, Tariverdian G, Albert FK, Sontheimer D, Zoller J, Weber M, Troger J Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course. Eur J Pediatr 1996 Sep;155(9):796-9