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Short rib (polydactyly) syndrome type IV: Beemer–Langer syndrome

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  • American Journal of Medical Genetics 46345 (1993)

    Letter to the Editor

    Short Rib (Polydactyly) Syndrome Type IV: Beemer-Langer Syndrome

    To the Editor: We read with great interest the clinical report en-

    titled Twin Fetuses with Abnormalities that Overlap with Three Midline Malformation Complexes by Hingorani et al. [19911.

    We wonder why the possibility of a lethal osteo- chondrodysplasia has not been considered despite char- acteristic histologic findings. Most of the manifestations described are compatible with short rib (polydactyly) syndrome m e IV (Beemer-Langer) of the interna- tional classification of osteochondrodysplasias [Interna- tional Working Group on Constitutional Disease of BoneISpranger, 19921.

    Lin et al. [19911 have compiled the clinical, radio- graphic, and necropsy findings in 8 patients with Bee- mer-Langer syndrome. In Table I we have compared these findings with those described in the twin fetuses described by Hingorani et al. [19911. Most of the mani- festations of Beemer-Langer syndrome were present in the twin fetuses described by Hingorani et al. [1991]. Two additional abnormalities are present, namely hypo- thalamic hamartoma and a midline defect in the occipi- tal bone which have not been reported in Beemer- Langer syndrome. However, hydrocephalus has been seen in this syndrome [Yang et al., 1991; Lin et al., 19911 and the additional CNS findings in the twin fetuses may reflect pleiotropy of the gene(s) of lethal osteo- chondrodysplasia. The occipital bone defect seen in the twin fetuses has been considered characteristic of the hydrolethalus syndrome. Recently we found a similar defect in two unrelated fetuses with characteristic find- ings of SR (P) I1 (Majewski) [Sharma et al., 19921. This defect need not be taken as specific for the hydrolethalus syndrome and may represent a defect in ossification.

    REFERENCES Hingorani SR, Pagon RA, Shepard TH, Kapur RP (1991): Twin fetuses

    with abnormalities that overlap with three midline malformation complexes. Am J Med Genet 41:230-235.

    Received for publication February 10, 1992; revision received October 7, 1992.

    Address reprint requests to Dr. Anita K. Sharma, Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medi- cal Sciences, Post Box No. 375, Lucknow, India.

    0 1993 Wiley-Liss, Inc.

    TABLE I. Comparison of Findings Between Beemer-Langer Syndrome and the Twin Fetuses

    Re~orted bv Hineorani et al. Normal chromosomes Hydrops Macrocephaly Flat face Median cleft lip Cleft palate Abnormal grooved palate Oral frenuls, milia Abnormal ears Flat, broad nasal bridge

    Short nose Narrow chest Short limbs Short horizontal ribs High clavicles Short long bones Bowed radiudulna Tibia longer than fibula Polydactyly Small scapula Small ilia GI malformations CNS malformations Cardiac malformations Renal malformations Lung malformations Abnormal bone histology

    313

    616 5 I6 415 215 215 115 315 5 I5

    515 616 717 818 617 717 616 417 0 616 616 416 116 116 216 116 3 I4

    518 + + + + + + + + + + + + + + - - - -

    Small nose with hypoplastic alae

    + + + + + + + + + + + + + +

    + - Not described Not described + + + + + -

    - - - - + +

    Described by Yang et al. [19911.

    International Working Group on Constitutional Diseases of Bone/ com- municated by Spranger J (1992): International classification of osteochondrodysplasias. Am J Med Genet 44:223-229.

    Lin AE, Doshi N, Flom L, Tenenhols B, Filkins KL (1991): Bee- mer-Langer syndrome with manifestations of an orofaciodigital syndrome. Am J Med Genet 39:247-251.

    Sharma AK, Phadke S, Chandra K, Upreti M, Khan EM, Naveed M, Agarwal SS (1992): Overlap between Majewski and Hydrolethalus syndromes. Am J Med Genet 43:949-953.

    Yang SS, Roth JA, Langer LO (1991): Short rib syndrome Bee- mer-Langer type with polydactyly: A multiple congenital anoma- lies syndrome. Am J Med Genet 39:243-246.

    Anita K. Sharma Shubha R. Phadke S.S. Agarwal Department of Medical Genetics Sanjay Gandhi Post Graduate Institute

    Lucknow, India of Medical Sciences