Definition: These syndromes associate growth retardation with microcephaly and various facial anomalies,,,,,. 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. Type II-III may have platyspondyly.
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,.
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.
 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
 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
 al Gazali LI, Hamada M, Lytle W Microcephalic osteodysplastic primordial dwarfism type II. Clin Dysmorphol 1995 Jul;4(3):234-8
 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
 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
 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
 Kozlowski K, Donovan T, Masel J, Wright RG Microcephalic, osteodysplastic, primordial dwarfism. Australas Radiol 1993 Feb;37(1):111-4
 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
 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